ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9102G>A (p.Gln3034=) (rs1336395181)

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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 RCV000589606 SCV000695210 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9102G>A (p.Gln3034Gln) variant causes a synonymous change involving a non-conserved nucleotide, which 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may eliminate ESE binding sites, 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. A database cites the variant with a classification of "UV." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS) - possibly benign."

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