ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) (rs368576266)

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Total submissions: 9
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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) RCV000495245 SCV000578676 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 RCV000124012 SCV000167418 benign not specified 2014-04-23 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 RCV000163185 SCV000213706 likely benign Hereditary cancer-predisposing syndrome 2014-12-18 criteria provided, single submitter clinical testing
Invitae RCV000198679 SCV000253056 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-26 criteria provided, single submitter clinical testing
Color RCV000163185 SCV000689173 likely benign Hereditary cancer-predisposing syndrome 2017-08-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758972 SCV000887958 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000124012 SCV000918988 likely benign not specified 2017-12-04 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9087G>A (p.Ala3029Ala) 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. 5/5 splice prediction tools predict no significant impact on normal splicing, which has been confirmed by an in vitro mini-gene study (Thery_2011). This variant was found in 12/244544 control chromosomes at a frequency of 0.0000491, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000198679 SCV000586989 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-18 no assertion criteria provided clinical testing
True Health Diagnostics RCV000163185 SCV000805248 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 no assertion criteria provided clinical testing

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