VCV000140786.36 - ClinVar

NM_000546.5(TP53):c.319T>C (p.Tyr107His)

Germline

Top reviewed classifications are shown here.

Submission summary:

15 submissions

15 submitters

8 conditions

Reviewed by expert panel

Benign

Aug 2019 by ClinGen TP53 V…

for Li-Fraumeni syndrome

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000546.5(TP53):c.319T>C (p.Tyr107His)

Variation ID: 140786 Accession: VCV000140786.36

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17p13.1 17: 7676050 (GRCh38) [ NCBI UCSC ] 17: 7579368 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Jan 7, 2017	May 1, 2024	Aug 28, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NM_000546.6:c.319T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000537.3:p.Tyr107His	missense
NM_000546.5(TP53):c.319T>C
NM_001126112.3:c.319T>C	NP_001119584.1:p.Tyr107His	missense
NM_001126113.3:c.319T>C	NP_001119585.1:p.Tyr107His	missense
NM_001126114.3:c.319T>C	NP_001119586.1:p.Tyr107His	missense
NM_001126118.2:c.202T>C	NP_001119590.1:p.Tyr68His	missense
NM_001276695.3:c.202T>C	NP_001263624.1:p.Tyr68His	missense
NM_001276696.3:c.202T>C	NP_001263625.1:p.Tyr68His	missense
NM_001276760.3:c.202T>C	NP_001263689.1:p.Tyr68His	missense
NM_001276761.3:c.202T>C	NP_001263690.1:p.Tyr68His	missense
NC_000017.11:g.7676050A>G
NC_000017.10:g.7579368A>G
NG_017013.2:g.16501T>C
LRG_321:g.16501T>C
LRG_321t1:c.319T>C	LRG_321p1:p.Tyr107His
	P04637:p.Tyr107His

... more HGVS ... less HGVS

Protein change

Y107H, Y68H

Other names

p.Y107H:TAC>CAC

Canonical SPDI

NC_000017.11:7676049:A:G

Functional
consequence

The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele
frequency (GMAF)

The 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.

0.00020 (G)

Allele frequency

The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.00007

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008

The Genome Aggregation Database (gnomAD), exomes 0.00008

1000 Genomes Project 0.00020

Trans-Omics for Precision Medicine (TOPMed) 0.00026

The Genome Aggregation Database (gnomAD) 0.00028

1000 Genomes Project 30x 0.00031

Links

ClinGen: CA000104

UniProtKB: P04637#VAR_044670

dbSNP: rs368771578

VarSome

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
Gene	OMIM	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.
TP53		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	3307	3402

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.
Hereditary cancer-predisposing syndrome	Benign/Likely benign (3)	criteria provided, multiple submitters, no conflicts	Jun 8, 2021	RCV000128936.16
not specified	Benign/Likely benign (2)	criteria provided, multiple submitters, no conflicts	Jul 30, 2020	RCV000235219.14
Li-Fraumeni syndrome 1	Uncertain significance (2)	criteria provided, multiple submitters, no conflicts	Apr 11, 2023	RCV000411273.5
not provided	Likely benign (2)	criteria provided, multiple submitters, no conflicts	Dec 2, 2022	RCV000588191.10
Li-Fraumeni syndrome	Benign (3)	reviewed by expert panel	Aug 28, 2019	RCV000991146.12
Adrenocortical carcinoma, hereditary Basal cell carcinoma, susceptibility to, 7 Bone marrow failure syndrome 5 Bone osteosarcoma Carcinoma of pancreas Choroid plexus papilloma Colorectal cancer Familial cancer of breast Glioma susceptibility 1 Hepatocellular carcinoma Li-Fraumeni syndrome 1 Nasopharyngeal carcinoma	Likely benign (1)	criteria provided, single submitter	Apr 16, 2022	RCV002498638.2
Breast and/or ovarian cancer	Benign (1)	criteria provided, single submitter	Apr 25, 2023	RCV003492581.1
TP53-related disorder	Likely benign (1)	criteria provided, single submitter	Mar 27, 2020	RCV003917413.1

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.
Benign (Aug 28, 2019)	reviewed by expert panel (ClinGen TP53 ACMG Specifications v1) Method: curation	Li-Fraumeni syndrome (Autosomal dominant inheritance) Affected status: unknown Allele origin: germline	ClinGen TP53 Variant Curation Expert Panel, ClinGen FDA Recognized Database Accession: SCV001142553.1 First in ClinVar: Jan 12, 2020 Last updated: Jan 12, 2020	Publications: PubMed (2) PubMed: 12826609‚ 30224644 Other databases https://erepo.clinicalgenome.org… https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b172bcbe-5cff-4ba5-9ba2-482b4e1e357d Comment: This variant has a minor allele frequency of 0.001122 (0.11%, 28/24,948 alleles) in the African subpopulation of the gnomAD cohort (BA1). The variant also has … (more) This variant has a minor allele frequency of 0.001122 (0.11%, 28/24,948 alleles) in the African subpopulation of the gnomAD cohort (BA1). The variant also has a BayesDel score < 0.16 and Align GVGD (Zebrafish) is Class C0 or Class C15 (BP4). Additionally, transactivation assays show partially functional variant according to Kato, et al. and there is no evidence of a dominant negative effect or loss of function according to Giacomelli, et al. (BS3_Supporting; PMID: 12826609, 30224644). Finally, this variant has been observed in at least 7 60+ year old females without a cancer diagnosis (BS2_Supporting; FLOSSIES database - https://whi.color.com). In summary, TP53 c.319T>C; p.Tyr107His meets criteria to be classified as benign for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BA1, BP4, BS3_Supporting, BS2_Supporting. (less)
Likely benign (Apr 24, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: no Allele origin: germline	Genetic Services Laboratory, University of Chicago Accession: SCV000597523.2 First in ClinVar: Aug 27, 2017 Last updated: Jun 15, 2020
Benign (Sep 03, 2020)	criteria provided, single submitter (St. Jude Assertion Criteria 2020) Method: clinical testing	Li-Fraumeni syndrome Affected status: unknown Allele origin: germline	St. Jude Molecular Pathology, St. Jude Children's Research Hospital Accession: SCV001439183.1 First in ClinVar: Oct 25, 2020 Last updated: Oct 25, 2020
Likely benign (Feb 23, 2021)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000211739.12 First in ClinVar: Feb 24, 2015 Last updated: Apr 09, 2018	Comment: This variant is associated with the following publications: (PMID: 15073856, 24729566, 21373875, 26580448, 26206375, 27626311, 24797764, 28056804, 25896519, 28861920, 29979965, 30352134, 33300245)
Likely benign (Apr 16, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial cancer of breast Colorectal cancer Hepatocellular carcinoma Glioma susceptibility 1 Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Bone osteosarcoma Carcinoma of pancreas Choroid plexus papilloma Nasopharyngeal carcinoma Basal cell carcinoma, susceptibility to, 7 Bone marrow failure syndrome 5 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002810023.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Uncertain significance (Apr 11, 2023)	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023)) Method: clinical testing	Li-Fraumeni syndrome 1 Affected status: unknown Allele origin: unknown	Myriad Genetics, Inc. Accession: SCV004017832.1 First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023	Comment: This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Likely benign (Dec 02, 2022)	criteria provided, single submitter (Quest Diagnostics criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV000602266.4 First in ClinVar: Sep 28, 2017 Last updated: Jan 06, 2024	Publications: PubMed (13) PubMed: 26580448‚ 28861920‚ 29979965‚ 30224644‚ 31983162‚ 33257846‚ 35802772‚ 34503094‚ 30352134‚ 35043155‚ 36008825‚ 36309086‚ 34088725
Benign (Apr 25, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast and/or ovarian cancer Affected status: unknown Allele origin: germline	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario Accession: SCV004239784.1 First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024
Likely benign (Jan 29, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Li-Fraumeni syndrome Affected status: unknown Allele origin: germline	Invitae Accession: SCV000285186.10 First in ClinVar: Jul 01, 2016 Last updated: Feb 20, 2024
Likely benign (Mar 27, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	TP53-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004734797.1 First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024	Comment: This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Benign (Jul 30, 2020)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	not specified Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000697439.2 First in ClinVar: Mar 17, 2018 Last updated: Aug 10, 2020	Publications: PubMed (21) PubMed: 17606709‚ 21343334‚ 20407015‚ 12826609‚ 26580448‚ 26230955‚ 21519010‚ 27463065‚ 25952993‚ 22186996‚ 27680515‚ 27959731‚ 16818505‚ 27895058‚ 30327374‚ 11782540‚ 23246812‚ 22915647‚ 26585234‚ 27276561‚ 25896519 Comment: Variant summary: TP53 c.319T>C (p.Tyr107His) results in a conservative amino acid change located in the p53, DNA-binding domain of the encoded protein sequence. Three of … (more) Variant summary: TP53 c.319T>C (p.Tyr107His) results in a conservative amino acid change located in the p53, DNA-binding domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. Functional studies based on the overall transcriptional activity in yeast assays classified this variant as partially functional (Kato_2003). The variant allele was found at a frequency of 0.00012 in 282734 control chromosomes, predominantly at a frequency of 0.0011 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 28 fold of the estimated maximal expected allele frequency for a pathogenic variant in TP53 causing Li-Fraumeni Syndrome phenotype (4e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. In addition, this variant was observed in old females, older than age 70 years who have never had cancer (FLOSSIES database). This variant has been reported in cancer patients without strong evidence for causality. Eight ClinVar submitters, including one expert panel (ClinGen TP53 Variant Curation Expert Panel, benign), (evaluation after 2014) cite the variant as uncertain significance (1x), likely benign (6x) and benign (1x). Based on the evidence outlined above, the variant was classified as benign. (less)
Likely benign (May 20, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000910800.2 First in ClinVar: May 19, 2019 Last updated: Jun 19, 2021
Benign (Jun 08, 2021)	criteria provided, single submitter (Sema4 Curation Guidelines) Method: curation	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Sema4, Sema4 Accession: SCV002530446.1 First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Uncertain significance (Sep 22, 2016)	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) Method: clinical testing	Li-Fraumeni syndrome 1 Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV000489333.2 First in ClinVar: Jan 07, 2017 Last updated: Dec 24, 2022	Publications: PubMed (2) PubMed: 25896519‚ 12826609
Likely benign (Feb 16, 2019)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV000172807.11 First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024	Comment: This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more) This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
click to load more click to collapse

Comment:

This variant has a minor allele frequency of 0.001122 (0.11%, 28/24,948 alleles) in the African subpopulation of the gnomAD cohort (BA1). The variant also has a BayesDel score < 0.16 and Align GVGD (Zebrafish) is Class C0 or Class C15 (BP4). Additionally, transactivation assays show partially functional variant according to Kato, et al. and there is no evidence of a dominant negative effect or loss of function according to Giacomelli, et al. (BS3_Supporting; PMID: 12826609, 30224644). Finally, this variant has been observed in at least 7 60+ year old females without a cancer diagnosis (BS2_Supporting; FLOSSIES database - https://whi.color.com). In summary, TP53 c.319T>C; p.Tyr107His meets criteria to be classified as benign for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BA1, BP4, BS3_Supporting, BS2_Supporting.

Comment:

Variant summary: TP53 c.319T>C (p.Tyr107His) results in a conservative amino acid change located in the p53, DNA-binding domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. Functional studies based on the overall transcriptional activity in yeast assays classified this variant as partially functional (Kato_2003). The variant allele was found at a frequency of 0.00012 in 282734 control chromosomes, predominantly at a frequency of 0.0011 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 28 fold of the estimated maximal expected allele frequency for a pathogenic variant in TP53 causing Li-Fraumeni Syndrome phenotype (4e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. In addition, this variant was observed in old females, older than age 70 years who have never had cancer (FLOSSIES database). This variant has been reported in cancer patients without strong evidence for causality. Eight ClinVar submitters, including one expert panel (ClinGen TP53 Variant Curation Expert Panel, benign), (evaluation after 2014) cite the variant as uncertain significance (1x), likely benign (6x) and benign (1x). Based on the evidence outlined above, the variant was classified as benign.

Comment:

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
PLTP is a p53 target gene with roles in cancer growth suppression and ferroptosis.	Gnanapradeepan K	The Journal of biological chemistry	2022	PMID: 36309086
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.	Foss-Skiftesvik J	Acta neuropathologica communications	2022	PMID: 36008825
Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.	Soussi T	Cancer research	2022	PMID: 35802772
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.	Ben-Cohen G	Briefings in bioinformatics	2022	PMID: 35043155
TP53 in Biology and Treatment of Osteosarcoma.	Synoradzki KJ	Cancers	2021	PMID: 34503094
Oncogenic Mutations in PI3K/AKT/mTOR Pathway Effectors Associate with Worse Prognosis in BRAF(V600E) -Driven Papillary Thyroid Cancer Patients.	Pappa T	Clinical cancer research : an official journal of the American Association for Cancer Research	2021	PMID: 34088725
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.	Doffe F	Cell death and differentiation	2021	PMID: 33257846
Association between PSCA, TNF-α, PARP1 and TP53 Gene Polymorphisms and Gastric Cancer Susceptibility in the Brazilian Population.	Dantas RN	Asian Pacific journal of cancer prevention : APJCP	2020	PMID: 31983162
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.	de Andrade KC	Human mutation	2019	PMID: 30352134
The mutational landscape of accelerated- and blast-phase myeloproliferative neoplasms impacts patient outcomes.	McNamara CJ	Blood advances	2018	PMID: 30327374
Mutational processes shape the landscape of TP53 mutations in human cancer.	Giacomelli AO	Nature genetics	2018	PMID: 30224644
A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation.	Kotler E	Molecular cell	2018	PMID: 29979965
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.	de Andrade KC	Human mutation	2017	PMID: 28861920
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.	Döhner H	Blood	2017	PMID: 27895058
The impact of TP53 mutations and TP53 deletions on survival varies between AML, ALL, MDS and CLL: an analysis of 3307 cases.	Stengel A	Leukemia	2017	PMID: 27680515
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes.	Welch JS	The New England journal of medicine	2016	PMID: 27959731
TP53 mutations in newly diagnosed acute myeloid leukemia: Clinicomolecular characteristics, response to therapy, and outcomes.	Kadia TM	Cancer	2016	PMID: 27463065
Genomic Classification and Prognosis in Acute Myeloid Leukemia.	Papaemmanuil E	The New England journal of medicine	2016	PMID: 27276561
Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.	Mullany LK	Neoplasia (New York, N.Y.)	2015	PMID: 26585234
Germline Mutations in Predisposition Genes in Pediatric Cancer.	Zhang J	The New England journal of medicine	2015	PMID: 26580448
TP53 mutations in de novo acute myeloid leukemia patients: longitudinal follow-ups show the mutation is stable during disease evolution.	Hou HA	Blood cancer journal	2015	PMID: 26230955
TP53 mutation characteristics in therapy-related myelodysplastic syndromes and acute myeloid leukemia is similar to de novo diseases.	Ok CY	Journal of hematology & oncology	2015	PMID: 25952993
Germline TP53 variants and susceptibility to osteosarcoma.	Mirabello L	Journal of the National Cancer Institute	2015	PMID: 25896519
Functional characterisation of p53 mutants identified in breast cancers with suboptimal responses to anthracyclines or mitomycin.	Berge EO	Biochimica et biophysica acta	2013	PMID: 23246812
A novel hierarchical prognostic model of AML solely based on molecular mutations.	Grossmann V	Blood	2012	PMID: 22915647
TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.	Rücker FG	Blood	2012	PMID: 22186996
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression.	Jädersten M	Journal of clinical oncology : official journal of the American Society of Clinical Oncology	2011	PMID: 21519010
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.	Monti P	Molecular cancer research : MCR	2011	PMID: 21343334
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.	Jordan JJ	Molecular cancer research : MCR	2010	PMID: 20407015
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.	Monti P	Clinical cancer research : an official journal of the American Association for Cancer Research	2007	PMID: 17606709
Functional analysis and molecular modeling show a preserved wild-type activity of p53(C238Y).	Ferrone M	Molecular cancer therapeutics	2006	PMID: 16818505
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.	Kato S	Proceedings of the National Academy of Sciences of the United States of America	2003	PMID: 12826609
A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants.	Friedler A	Proceedings of the National Academy of Sciences of the United States of America	2002	PMID: 11782540
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/b172bcbe-5cff-4ba5-9ba2-482b4e1e357d	-	-	-	-
click to load more click to collapse

Text-mined citations for rs368771578 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 19, 2024

ClinVar Genomic variation as it relates to human health

NM_000546.5(TP53):c.319T>C (p.Tyr107His)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs368771578 ...