ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1015G>A (p.Asp339Asn) (rs1555281693)

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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 RCV000589057 SCV000694497 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1015G>A (p.Asp339Asn) variant causes a missense change involving a non-conserved nucleotide, which 4/5 in silico tools predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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