ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10250A>G (p.Tyr3417Cys) (rs730881600)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771295 SCV000903509 likely benign Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000160263 SCV000210702 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000230091 SCV000283162 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-12-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 3417 of the BRCA2 protein (p.Tyr3417Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 182306). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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