ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
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;
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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.