ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3711T>C (p.Ala1237=) (rs745588537)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163576 SCV000214135 likely benign Hereditary cancer-predisposing syndrome 2014-10-16 criteria provided, single submitter clinical testing
Color RCV000163576 SCV000683575 likely benign Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495616 SCV000579032 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 RCV000781143 SCV000919006 uncertain significance not specified 2018-10-08 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3711T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.1e-05 in 274790 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3711T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrence with a pathogenic variant has been reported (BRCA1 c.3339_3341delTGA, p.Tyr1113X), providing supporting evidence for a benign role. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000206659 SCV000261368 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-20 criteria provided, single submitter clinical testing

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