ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
Variation ID: 128117 Accession: VCV000128117.73
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p12.2 16: 23635306 (GRCh38) [ NCBI UCSC ] 16: 23646627 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 1, 2016 May 26, 2024 Feb 23, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024675.4:c.1240C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_078951.2:p.Arg414Ter nonsense NC_000016.10:g.23635306G>A NC_000016.9:g.23646627G>A NG_007406.1:g.11052C>T LRG_308:g.11052C>T LRG_308t1:c.1240C>T LRG_308p1:p.Arg414Ter - Protein change
- R414*
- Other names
- p.R414*:CGA>TGA
- Canonical SPDI
- NC_000016.10:23635305:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PALB2 | - | - |
GRCh38 GRCh37 |
5837 | 5876 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 29, 2023 | RCV000116064.24 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 15, 2024 | RCV000123331.29 | |
Pathogenic (2) |
criteria provided, single submitter
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Sep 28, 2021 | RCV000588541.11 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001354096.9 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2023 | RCV000254674.40 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162546.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 7, 2021 | RCV002477287.8 | |
PALB2-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Feb 23, 2024 | RCV004529946.1 |
Pathogenic (1) |
criteria provided, single submitter
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Dec 6, 2023 | RCV004555854.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Apr 29, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002761569.1
First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022 |
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Pathogenic
(Jul 26, 2016)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000488968.2
First in ClinVar: Jul 01, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002551680.4
First in ClinVar: Jul 28, 2022 Last updated: Aug 18, 2023 |
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Pathogenic
(Jul 18, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV004027759.1
First in ClinVar: Aug 26, 2023 Last updated: Aug 26, 2023 |
Comment:
Criteria applied: PVS1,PS4,PM2_SUP
Clinical Features:
Increased LDL cholesterol concentration (present) , Arcus senilis (present)
Sex: female
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Pathogenic
(Sep 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004202064.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Mar 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186556.10
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.R414* pathogenic mutation (also known as c.1240C>T), located in coding exon 4 of the PALB2 gene, results from a C to T substitution at … (more)
The p.R414* pathogenic mutation (also known as c.1240C>T), located in coding exon 4 of the PALB2 gene, results from a C to T substitution at nucleotide position 1240. This changes the amino acid from an arginine to a stop codon within coding exon 4. This alteration has been reported in pancreatic, breast, and ovarian cancer patients to date, including multiple individuals with family histories significant for PALB2-related cancers (Slater EP et al. Clin. Genet. 2010 Nov;78:490-4; Casadei S et al. Cancer Res. 2011 Mar;71:2222-9; Bogdanova N et al. Breast Cancer Res. Treat. 2011 Apr;126:545-50; Hellebrand H et al. Hum. Mutat. 2011 Jun;32:E2176-88; Janatova M et al. Cancer Epidemiol. Biomarkers Prev. 2013 Dec;22:2323-32; Kanchi KL et al. Nat. Commun. 2014;5:3156; Antoniou AC et al. N. Engl. J. Med. 2014 Oct;371(17):1651-2; Tung N et al. Cancer. 2015 Jan;121:25-33; Pinto P et al. Breast Cancer Res.Treat. 2016 Sep;159:245-56; Brand R et al. Cancer. 2018 Sep;124(17):3520-3527). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446611.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Breast carcinoma (present)
Sex: female
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499700.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Sep 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699526.2
First in ClinVar: Mar 17, 2018 Last updated: Oct 30, 2021 |
Comment:
Variant summary: PALB2 c.1240C>T (p.Arg414X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: PALB2 c.1240C>T (p.Arg414X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 7.9e-06 in 252702 control chromosomes. c.1240C>T has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Bogdanova_2011, Casadei_2011, Susswein_2015, Norquist_2016, Sun_2017). 12 clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Nov 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512645.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate
Geographic origin: Brazil
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Pathogenic
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV000839042.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611291.2
First in ClinVar: Nov 11, 2017 Last updated: Dec 31, 2022 |
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Pathogenic
(Jun 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000149973.14
First in ClinVar: May 17, 2014 Last updated: Jul 01, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21285249, 23935836, 21207249, 25099575, 25525159, 24136930, 23935381, 24870022, 26720728, 27067391, 25619955, 27553368, 28024868, 28528518, 26681312, 22692731, 24448499, 25186627, 20412113, 21165770, 21618343, 29945567, 28779002, 29470806, 28724667, 29706558, 30067863, 30322717, 32426482, 32339256, 31589614, 32885271, 34308104, 36003761, 35753512, 30130155, 32853339, 29922827, 32997802, 28888541, 35264596, 31467304, 31619740, 36988593, 35118230, 36978154, 35875117, 36278678, 35685475, 35798629) (less)
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Pathogenic
(Mar 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004019641.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
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Pathogenic
(Mar 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601725.3
First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024 |
Comment:
This variant causes the premature termination of PALB2 protein synthesis. In the published literature, this variant has been reported in individuals and families with breast … (more)
This variant causes the premature termination of PALB2 protein synthesis. In the published literature, this variant has been reported in individuals and families with breast cancer or pancreatic ductal adenocarcinoma in the published literature (PMID: 30067863 (2018), 29470806 (2018), 28528518 (2017), 25186627 (2015), 21618343 (2011)). The frequency of this variant in the general population, 0.000029 (1/34586 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 15, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000166641.14
First in ClinVar: Jun 15, 2014 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg414*) in the PALB2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg414*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (rs180177100, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 21165770, 21285249, 21618343, 22692731, 24136930, 24448499). ClinVar contains an entry for this variant (Variation ID: 128117). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000685862.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 4 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 4 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast cancer (PMID: 21165770, 21285249, 21618343, 24136930, 25099575, 25186627, 26681312, 27553368, 29470806, 30128536, 33471991), pancreatic cancer (PMID: 20412113, 27449771, 30067863), and ovarian cancer (PMID: 24448499). In a breast cancer case-control study, PALB2 p.Arg414* was detected in 22/64,780 cases and 3/49,825 unaffected controls (OR 5.89, 95%CI 1.76-19.74, p = 0.004) (PMID: 31467304). This variant has been identified in 2/250782 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Feb 23, 2024)
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criteria provided, single submitter
Method: clinical testing
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PALB2-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004710969.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The PALB2 c.1240C>T variant is predicted to result in premature protein termination (p.Arg414*). This variant has been reported in multiple individuals with pancreatic or breast … (more)
The PALB2 c.1240C>T variant is predicted to result in premature protein termination (p.Arg414*). This variant has been reported in multiple individuals with pancreatic or breast or ovarian cancer (see for example: Slater et al. 2010. PubMed ID: 20412113; Bogdanova et al. 2010. PubMed ID: 21165770; Casadei et al. 2011. PubMed ID: 21285249; Kanchi et al. 2014. PubMed ID: 24448499). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. Multiple independent submitters in the ClinVar database interpreted this variant as pathogenic (https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/clinvar/variation/128117/). Nonsense variants in PALB2 are expected to be pathogenic. In summary, this variant is interpreted as pathogenic. (less)
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Pathogenic
(Sep 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247805.21
First in ClinVar: May 12, 2020 Last updated: May 12, 2024 |
Number of individuals with the variant: 3
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Pathogenic
(Dec 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV005045091.1
First in ClinVar: May 26, 2024 Last updated: May 26, 2024 |
Comment:
The PALB2 c.1240C>T (p.Arg414Ter) variant has been reported in over 10 individuals with breast, ovarian, and pancreatic cancer (Antoniou AC et al., PMID: 25099575; Blanco … (more)
The PALB2 c.1240C>T (p.Arg414Ter) variant has been reported in over 10 individuals with breast, ovarian, and pancreatic cancer (Antoniou AC et al., PMID: 25099575; Blanco A et al., PMID: 23935836; Bogdanova N et al., PMID: 21165770; Casadei S et al., PMID: 21285249; Catucci I et al., PMID: 22692731; Hellebrand H et al., PMID: 21618343; Janatova M et al., PMID: 24136930; Kanchi KL et al., PMID: 24448499; Schneider R et al., PMID: 21207249). This nonsense variant generates a premature stop codon that is predicted to result in nonsense mediated decay in a gene for which loss of function is a known mechanism of disease. This variant is only observed on 2/250,782 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant has been reported in the ClinVar database as a pathogenic variant in by 21 submitters (ClinVar Variation ID: 128117). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as pathogenic. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001548625.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PALB2 p.Arg414X variant was identified in 9 of 5690 proband chromosomes (frequency: 0.0016) from individuals or families with breast and or ovarian cancer negative … (more)
The PALB2 p.Arg414X variant was identified in 9 of 5690 proband chromosomes (frequency: 0.0016) from individuals or families with breast and or ovarian cancer negative for BRCA1 and BRCA2 genes mutations and familial pancreatic cancer (Hellebrand 2011 PMID:21618343, Bogdanova 2011 PMID:21165770, Casadei 2011 PMID:21285249, Slater 2010 PMID:20412113, Janatova 2013 PMID:24136930, Antoniou 2014 PMID:25099575). The variant was also identified in the following databases: dbSNP (ID: rs180177100) as “With Pathogenic allele”, ClinVar (6x classified as pathogenic by GeneDx, Invitae, Ambry Genetics, Counsyl, Quest Diagnostics, Fulgent Genetics), Clinvitae (3x as pathogenic by ClinVar and Invitae), LOVD 3.0 (9x, reported as "affects function") and Zhejiang Colon Cancer Database (1x). The variant was not identified in Cosmic, or MutDB databases. The variant was identified in control databases in 2 of 245860 chromosomes at a frequency of 0.000008 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include Latino in 1 of 33574 chromosomes (freq: 0.00003), European Non-Finnish in 1 of 111392 chromosomes (freq: 0.000009), while the variant was not observed in the African, Other, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The p.Arg414X variant leads to a premature stop codon at position 414 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PALB2 gene are an established mechanism of disease in breast, ovarian and pancreatic cancers and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(May 13, 2019)
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no assertion criteria provided
Method: curation
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not provided
Affected status: yes
Allele origin:
germline
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Leiden Open Variation Database
Accession: SCV001193079.1
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
Comment:
Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Alfons Meindl, Marc Tischkowitz.
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Pathogenic
(Aug 26, 2022)
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no assertion criteria provided
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV002588987.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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Pathogenic
(Jul 01, 2021)
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no assertion criteria provided
Method: research
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Gastric cancer
Affected status: unknown
Allele origin:
germline
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Laboratory for Genotyping Development, RIKEN
Accession: SCV002758152.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers. | Janssen B | Journal of human genetics | 2020 | PMID: 31619740 |
Two truncating variants in FANCC and breast cancer risk. | Dörk T | Scientific reports | 2019 | PMID: 31467304 |
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. | Lu HM | JAMA oncology | 2019 | PMID: 30128536 |
Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma. | Brand R | Cancer | 2018 | PMID: 30067863 |
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. | Singh J | Breast cancer research and treatment | 2018 | PMID: 29470806 |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. | Cock-Rada AM | Familial cancer | 2018 | PMID: 28528518 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. | Pinto P | Breast cancer research and treatment | 2016 | PMID: 27553368 |
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. | Yang XR | Human genetics | 2016 | PMID: 27449771 |
Inherited Mutations in Women With Ovarian Carcinoma. | Norquist BM | JAMA oncology | 2016 | PMID: 26720728 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Breast-cancer risk in families with mutations in PALB2. | Antoniou AC | The New England journal of medicine | 2014 | PMID: 25099575 |
Integrated analysis of germline and somatic variants in ovarian cancer. | Kanchi KL | Nature communications | 2014 | PMID: 24448499 |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. | Janatova M | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2013 | PMID: 24136930 |
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. | Catucci I | Familial cancer | 2012 | PMID: 22692731 |
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. | Hellebrand H | Human mutation | 2011 | PMID: 21618343 |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. | Casadei S | Cancer research | 2011 | PMID: 21285249 |
PALB2 mutations in German and Russian patients with bilateral breast cancer. | Bogdanova N | Breast cancer research and treatment | 2011 | PMID: 21165770 |
PALB2 mutations in European familial pancreatic cancer families. | Slater EP | Clinical genetics | 2010 | PMID: 20412113 |
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. | Xia B | Nature genetics | 2007 | PMID: 17200672 |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. | Reid S | Nature genetics | 2007 | PMID: 17200671 |
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. | Rahman N | Nature genetics | 2007 | PMID: 17200668 |
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HelpRecord last updated May 27, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.