ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6231G>C (p.Lys2077Asn) (rs541826447)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588715 SCV000166180 likely benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000222718 SCV000277170 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000412472 SCV000488080 uncertain significance Breast-ovarian cancer, familial 2 2015-12-23 criteria provided, single submitter clinical testing
Color RCV000222718 SCV000683762 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588715 SCV000694949 uncertain significance not provided 2016-03-25 criteria provided, single submitter clinical testing Variant Summary: The c.6231G>C variant involves the alteration of a non-conserved nucleotide and 5/5 in silico tools predict a pathogenic outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.017%, predominantly observed in the South Asian subpopulation at an allele frequency of 0.12%. This subpopulation frequency significantly exceeds the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%), suggesting this is a benign polymorphism found primarily in population(s) of South Asian origin. The variant has been reported in one publication, without strong evidence for causality. One reputable clinical lab has classified the variant as a VUS (evaluated before the ExAC cohort was commonly used as a control population). Taken together, this variant has been classified as a VUS-possibly benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588715 SCV001133857 uncertain significance not provided 2018-10-30 criteria provided, single submitter clinical testing

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