NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 19, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001560201.10

Allele description [Variation Report for NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)]

NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)

Other names:

9161C>A

HGVS:

NC_000013.11:g.32379495C>A
NG_012772.3:g.69016C>A
NM_000059.4:c.8933C>AMANE SELECT
NP_000050.2:p.Ser2978Ter
NP_000050.3:p.Ser2978Ter
LRG_293t1:c.8933C>A
LRG_293:g.69016C>A
LRG_293p1:p.Ser2978Ter
NC_000013.10:g.32953632C>A
NM_000059.3:c.8933C>A
U43746.1:n.9161C>A

Protein change:

S2978*

Links:

dbSNP: rs80359144

NCBI 1000 Genomes Browser:

rs80359144

Molecular consequence:

NM_000059.4:c.8933C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001782562	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 19, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001782562

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jun 19, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001782562.1

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

Description

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; Observed in individuals with a personal or family history including breast cancer (Scott 2003, Deb 2012); Not observed in large population cohorts (Lek 2016); Also known as BRCA2 c.9161C>A; This variant is associated with the following publications: (PMID: 23146383, 16162645, 31209999, 25525159, 29446198, 12601471)

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

Last Updated: Jun 9, 2024

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