ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8032A>G (p.Arg2678Gly) (rs80359039)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045394 SCV000073407 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2678 of the BRCA2 protein (p.Arg2678Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with breast cancer (PMID: 18284688). ClinVar contains an entry for this variant (Variation ID: 52478). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive and a BRCA2 specific computational method predicts that this missense change has a deleterious effect on BRCA2 protein function (PMID: 19043619) but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000572606 SCV000661365 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Counsyl RCV000077424 SCV000786212 uncertain significance Breast-ovarian cancer, familial 2 2018-03-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077424 SCV000109222 uncertain significance Breast-ovarian cancer, familial 2 2009-06-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077424 SCV000147253 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496893 SCV000587932 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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