ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) (rs587780658)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164114 SCV000214728 likely benign Hereditary cancer-predisposing syndrome 2014-06-16 criteria provided, single submitter clinical testing
Color RCV000164114 SCV000683790 likely benign Hereditary cancer-predisposing syndrome 2017-04-28 criteria provided, single submitter clinical testing
Counsyl RCV000409184 SCV000488587 likely benign Breast-ovarian cancer, familial 2 2016-05-04 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000409184 SCV000578980 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/).
Genetic Services Laboratory, University of Chicago RCV000499540 SCV000593724 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000499540 SCV000916842 likely benign not specified 2018-02-09 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.6531T>A 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. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (8.8e-05 vs 7.50E-04), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6531T>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000122924 SCV000166182 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000499540 SCV000600710 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759642 SCV000889101 benign not provided 2018-05-18 criteria provided, single submitter clinical testing

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