ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2077T>C (p.Cys693Arg) (rs878853558)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226849 SCV000283181 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 693 of the BRCA2 protein (p.Cys693Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine 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: 236834). 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 tolerated, but 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 RCV000565629 SCV000668782 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759587 SCV000889000 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Color RCV000565629 SCV000911679 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing

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