ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7857G>A (p.Trp2619Ter) (rs80359011)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031704 SCV000301211 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000162936 SCV000213423 pathogenic Hereditary cancer-predisposing syndrome 2017-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031704 SCV000327746 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496960 SCV000592152 pathogenic Hereditary breast and ovarian cancer syndrome 2012-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000521372 SCV000618238 pathogenic not provided 2018-02-12 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7857G>A at the cDNA level and p.Trp2619Ter (W2619X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature, this variant would also be defined as BRCA2 8085G>A. This variant has been reported in at least one individual with ovarian cancer and in an additional individual undergoing testing for hereditary breast and ovarian cancer (Minucci 2015, Solano 2016). We consider this variant to be pathogenic.
Counsyl RCV000031704 SCV000785585 pathogenic Breast-ovarian cancer, familial 2 2017-09-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031704 SCV000054311 pathogenic Breast-ovarian cancer, familial 2 2009-05-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031704 SCV000147203 pathogenic Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496960 SCV000587915 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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