ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8432A>G (p.Asp2811Gly) (rs80359090)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045516 SCV000073529 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2811 of the BRCA2 protein (p.Asp2811Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs80359090, ExAC <0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 10717622). ClinVar contains an entry for this variant (Variation ID: 52585). General algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). However, an algorithm developed specifically for the BRCA2 gene (PMID: 19043619) suggests that it is likely to be tolerated. None of these predictions have been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455611 SCV000538495 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 paper; ClinVar: 1 VUS
Color RCV000771458 SCV000903875 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113931 SCV000147362 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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