ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7241_7242invCA (p.Ser2414Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771414 SCV000903773 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Invitae RCV000234596 SCV000283311 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-02-02 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 2414 of the BRCA2 protein (p.Ser2414Leu). The serine residue is moderately conserved and there is a small physicochemical difference between serine 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 do not agree on the potential impact of this missense change (SIFT: "tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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