ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8300C>T (p.Pro2767Leu)

dbSNP: rs397507401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048008 SCV001211997 uncertain significance Hereditary breast ovarian cancer syndrome 2019-01-15 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 2767 of the BRCA2 protein (p.Pro2767Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. 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. 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency).
GeneDx RCV001564190 SCV001787313 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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