ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.593+3G>A (rs80358013)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000159866 SCV000602677 likely benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000166105 SCV000216872 likely benign Hereditary cancer-predisposing syndrome 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA1) RCV000077174 SCV000145634 uncertain significance Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Counsyl RCV000077174 SCV000785370 likely benign Breast-ovarian cancer, familial 1 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000159866 SCV000209915 benign not specified 2014-08-29 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 RCV000416557 SCV000494426 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-06-29 criteria provided, single submitter clinical testing Variant Summary: The c.593+3G>A variant involves the alteration of a non-conserved nucleotide resulting in a intronic change. This variant is located in a position that is not widely known to affect splicing, 4/5 splicing prediction programs 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 0.003%, and is exlusively present in the African population at a frequency of 0.039%. This frequency does not exceed the maximal expected allele frequency for a pathogenic variant in BRCA1 (0.1%). The variant has not been reported in the literature, however several reputable clinical labs have classified the variant as likely benign/benign. Because of the variants lack of effect on protein structure, and predicted lack of effect on splicing, as well as reputable clinical labs classifying the variant as likely benign/benign, this variant has been classified as a VUS - possibly benign variant.
Invitae RCV000416557 SCV000560277 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077174 SCV000108971 likely benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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.