ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2886T>C (p.His962=) (rs786202807)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165815 SCV000216562 likely benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Color RCV000165815 SCV000688777 likely benign Hereditary cancer-predisposing syndrome 2017-10-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495667 SCV000578869 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Integrated Genetics/Laboratory Corporation of America RCV000587281 SCV000694642 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2886T>C (p.His962His) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been found in a large, broad control population, ExAC in 120568 control chromosomes. One clinical diagnostic laboratory classified this variant as likely benign without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported as a germline variant in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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