ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) (rs146430937)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162665 SCV000213109 likely benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
Color RCV000162665 SCV000683936 benign Hereditary cancer-predisposing syndrome 2016-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000495522 SCV000785077 uncertain significance Breast-ovarian cancer, familial 2 2017-04-05 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495522 SCV000579152 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/).
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735607 SCV000863745 likely benign Breast and/or ovarian cancer 2014-03-06 no assertion criteria provided clinical testing
GeneDx RCV000428428 SCV000512391 benign not specified 2015-05-29 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.
Integrated Genetics/Laboratory Corporation of America RCV000586244 SCV000695122 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8010G>A (p.Ser2670Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 11/120304 control chromosomes at a frequency of 0.0000914, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign, with one database citing the variant to co-occur with a pathogenic BRCA1 variant in one individual (BRCA1 c.3228_3229delAG (p.Gly1077AlafsX8)). Taken together, this variant is classified as likely benign.
Invitae RCV000197859 SCV000253044 benign Hereditary breast and ovarian cancer syndrome 2017-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000428428 SCV000600777 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586244 SCV000889148 likely benign not provided 2016-12-06 criteria provided, single submitter clinical testing

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