ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2787A>G (p.Leu929=) (rs878853564)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562904 SCV000673084 likely benign Hereditary cancer-predisposing syndrome 2016-09-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000589906 SCV000694626 uncertain significance not provided 2017-06-25 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2787A>G (p.Leu929Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. One in silico tool predicts a benign outcome for this variant. The variant of interest is absent in a large, broad control population, ExAC in 120752 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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