ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.951A>G (p.Gln317=) (rs759419385)

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Total submissions: 7
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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) RCV000495807 SCV000578374 likely benign Breast-ovarian cancer, familial 1 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;
Invitae RCV000206010 SCV000259964 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571430 SCV000664933 likely benign Hereditary cancer-predisposing syndrome 2016-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000571430 SCV000683378 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000615205 SCV000728007 likely benign not specified 2018-02-22 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.
PreventionGenetics,PreventionGenetics RCV000679705 SCV000806987 likely benign not provided 2017-12-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000615205 SCV000916742 likely benign not specified 2018-05-25 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.951A>G 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. The variant allele was found at a frequency of 8.2e-06 in 121408 control chromosomes, predominantly at a frequency of 1.5e-05 within the Non-Finnish European subpopulation in the ExAC database. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.951A>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) cite the variant as unlikely to be associated with Hereditary Breast and Ovarian Cancer (Judkins_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has 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 benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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