ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7977-20A>T (rs1555286924)

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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 RCV000588235 SCV000695106 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7977-20A>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools via Alamut suggest no significant impact on a normal splicing pattern. This variant is absent from 108486 control chromosomes (ExAC data). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories nor was it evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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