NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Sep 5, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000514699.9

Allele description [Variation Report for NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)]

NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)

Gene:

PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

Preferred name:

NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)

HGVS:

NC_000010.11:g.94171182C>T
NG_015799.1:g.182194C>T
NM_001165979.2:c.571C>T
NM_001288989.2:c.1495C>T
NM_016341.4:c.1495C>TMANE SELECT
NP_001159451.1:p.Arg191Cys
NP_001275918.1:p.Arg499Cys
NP_057425.3:p.Arg499Cys
NC_000010.10:g.95930939C>T
NM_016341.3:c.1495C>T

Protein change:

R191C

Links:

dbSNP: rs61751493

NCBI 1000 Genomes Browser:

rs61751493

Molecular consequence:

NM_001165979.2:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001288989.2:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016341.4:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000610088	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 30, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000843208	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Aug 31, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24500309, 27766458, 26467025
SCV002371171	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Sep 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000610088

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 30, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000843208

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Aug 31, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002371171

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Sep 5, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE.

Nephrol Dial Transplant. 2014 Nov;29(11):2062-9. doi: 10.1093/ndt/gft532. Epub 2014 Feb 4.

PubMed [citation]

PMID:: 24500309

See all PubMed Citations (5)

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000610088.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.002151	not provided	not provided

From Athena Diagnostics, SCV000843208.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Invitae, SCV002371171.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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