ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9634G>A (p.Gly3212Arg) (rs55775473)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586809 SCV000695257 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9634G>A (p.Gly3212Arg) variant causes a missense change involving a conserved nucleotide with 3/5 in silico tools predicting a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not found in controls (ExAC, 1000 Gs, or ESP). However, it should be noted another variant, c.9634G>C (scored NV) causing the same missense change was observed in the large, broad control population, ExAC, with an allele frequency of 62/121384, along with being reported in one database to co-occur with multiple deleterious BRCA2 variants and multiple clinical laboratories via ClinVar citing the variant as "benign/likely benign." The variant of interest, to our knowledge, has not been reported in reputable databases/clinical laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "VUS-possibly benign."

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