ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) (rs587780871)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410672 SCV000578858 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/).
GeneDx RCV000123991 SCV000167389 benign not specified 2014-02-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000162707 SCV000213167 likely benign Hereditary cancer-predisposing syndrome 2014-10-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240690 SCV000265955 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Counsyl RCV000410672 SCV000489052 likely benign Breast-ovarian cancer, familial 2 2016-08-09 criteria provided, single submitter clinical testing
Invitae RCV000457670 SCV000560435 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123991 SCV000600735 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Color RCV000162707 SCV000683856 likely benign Hereditary cancer-predisposing syndrome 2016-08-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588464 SCV000695049 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing Variant summary: The c.7188G>A variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with, an allele frequency of 0.007%, but is predominantly present in the Asian population at a frequency of ~0.03%. These frequencies do not exceed the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%), however this variant may be a low frequency polymorphism found in population(s) of Asian origin. The variant has been observed in affected Korean individuals in the literature (Han_2006, Kim_2006), however these reports classified the variant as a polymorphism. Multiple reputable clinical labs have classified the variant as likely benign/benign. Taken together, this variant has been classified as a variant of uncertain significance - possibly benign variant, until additional evidence becomes available.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588464 SCV000887904 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing

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