ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1254A>C (p.Ser418=) (rs1052409595)

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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 RCV000588164 SCV000694525 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1254A>C (p.Ser418Ser) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predicting no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or clinical diagnostic laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a VUS-possibly benign, until additional information becomes available.

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