ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8320C>G (p.Leu2774Val)

dbSNP: rs2072761310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058865 SCV001223462 uncertain significance Hereditary breast ovarian cancer syndrome 2020-12-23 criteria provided, single submitter clinical testing 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. This sequence change replaces leucine with valine at codon 2774 of the BRCA2 protein (p.Leu2774Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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