ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8312C>T (p.Pro2771Leu) (rs1060502415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573013 SCV000665984 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000475922 SCV000549579 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-11-21 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2771 of the BRCA2 protein (p.Pro2771Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758958 SCV000887935 uncertain significance not provided 2018-08-20 criteria provided, single submitter clinical testing

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