ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) (rs138067005)

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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 RCV000213502 SCV000273910 likely benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000457254 SCV000541057 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000586071 SCV000892067 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000213502 SCV000903484 likely benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000495312 SCV000744516 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495312 SCV000579060 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 RCV000417816 SCV000515759 benign not specified 2015-06-23 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.
Integrated Genetics/Laboratory Corporation of America RCV000586071 SCV000695059 uncertain significance not provided 2016-04-04 criteria provided, single submitter clinical testing Variant summary: This c.7413A>G variant affects a non-conserved nucleotide located significantly away from the exon-intron boundary, resulting in synonymous amino acid change. One in-silico tool predicts a benign outcome. In addition, 5/5 splice-site tools via Alamut predict the variant not to affect normal splicing. This variant was found in 4/119710 control chromosomes from the broad and large populations of ExAC at a frequency of 0.0000334, which does not exceed the maximal expected frequency of a pathogenic allele (0.0007503) in this gene. However, the variant could still represent as a rare polymorphism. It has also been reported in literature in two unrelated patients with breast and/or ovarian cancer without strong evidence for causality. One reputable database has classified this variant as VUS. Taken together, this variant has currently been classified as VUS-possibly benign.
Invitae RCV000472955 SCV000560482 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586071 SCV000887914 likely benign not provided 2017-10-12 criteria provided, single submitter clinical testing

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