ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9889G>C (p.Ala3297Pro)

dbSNP: rs1555289995
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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 RCV000557909 SCV000635765 uncertain significance Hereditary breast ovarian cancer syndrome 2017-03-22 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces alanine with proline at codon 3297 of the BRCA2 protein (p.Ala3297Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.
Sema4, Sema4 RCV002255442 SCV002532070 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-09 criteria provided, single submitter curation

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