ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9997C>G (p.Leu3333Val) (rs567476314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132264 SCV000187347 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000662506 SCV000785035 uncertain significance Breast-ovarian cancer, familial 2 2017-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000679200 SCV000972568 likely benign not provided 2018-06-04 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 RCV000232518 SCV000283377 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-02-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 3333 of the BRCA2 protein (p.Leu3333Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. 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: 142831). 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.
PreventionGenetics RCV000679200 SCV000805804 uncertain significance not provided 2018-01-08 criteria provided, single submitter clinical testing

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