ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3675A>G (p.Thr1225=) (rs276174835)

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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) RCV000113204 SCV000579076 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/).
Invitae RCV001083864 SCV000072252 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162908 SCV000213395 likely benign Hereditary cancer-predisposing syndrome 2014-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000426750 SCV000518081 likely benign not specified 2016-07-22 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.
Counsyl RCV000113204 SCV000786050 likely benign Breast-ovarian cancer, familial 2 2018-02-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759602 SCV000889025 likely benign not provided 2018-01-18 criteria provided, single submitter clinical testing
Color RCV000162908 SCV000906902 likely benign Hereditary cancer-predisposing syndrome 2017-11-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000426750 SCV001338199 likely benign not specified 2020-02-28 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3675A>G alters a conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 249692 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3675A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Seven 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113204 SCV000146274 benign Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing

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