ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2883C>T (p.Asn961=) (rs201190540)

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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) RCV000494985 SCV000578415 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; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000163651 SCV000214221 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
Invitae RCV000205842 SCV000261165 likely benign Hereditary breast and ovarian cancer syndrome 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000440368 SCV000518927 likely benign not specified 2018-02-07 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000440368 SCV000600304 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Color RCV000163651 SCV000683069 likely benign Hereditary cancer-predisposing syndrome 2017-03-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588582 SCV000698985 likely benign not provided 2016-03-22 criteria provided, single submitter clinical testing Variant Summary: The c.2883C>T variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 5/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.002% which does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA1 (0.10%). The variant was reported in the literature in affected individuals, without strong evidence for causality and in one case, the variant did not segregate with disease in a breast cancer family ( the variant was absent in one affected family member; Santos_2014). Additionally, multiple reputable clinical labs have classified the variant as likely benign and the variant is reported to co-occur in an individual with a pathogenic BRCA1 variant (p.Met1?) via UMD. Taken together, this variant has currently been classified as Likely Benign.

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