ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8051A>G (p.Lys2684Arg) (rs80359043)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045401 SCV000073414 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-07-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 2684 of the BRCA2 protein (p.Lys2684Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 52485). 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 this missense change is likely to be tolerated. The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000132517 SCV000187613 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759668 SCV000889150 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Color RCV000132517 SCV000911876 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077426 SCV000109224 uncertain significance Breast-ovarian cancer, familial 2 2012-09-05 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077426 SCV000147258 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
True Health Diagnostics RCV000132517 SCV000886676 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-07 no assertion criteria provided clinical testing

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