ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3789T>C (p.Ser1263=) (rs876659185)

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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 RCV000220322 SCV000275346 likely benign Hereditary cancer-predisposing syndrome 2015-04-19 criteria provided, single submitter clinical testing
Color RCV000220322 SCV000904838 likely benign Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495222 SCV000578928 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 RCV000590278 SCV000694718 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The c.3789T>C (p.Ser1263=) in BRCA2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant may affect splicing as it eliminates a cryptic binding site, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control population datasets of ExAC and gnomAD (112212and 30942 chrs tested, respectively). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Likely Benign by areputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possible Benign.

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