ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81-12C>G (rs80358055)

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
GeneDx RCV000159932 SCV000210059 likely benign not specified 2018-02-14 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 RCV000077183 SCV000220999 likely benign Breast-ovarian cancer, familial 1 2014-12-30 criteria provided, single submitter literature only
Invitae RCV000198212 SCV000252824 benign Hereditary breast and ovarian cancer syndrome 2017-12-31 criteria provided, single submitter clinical testing
Color RCV000580482 SCV000683362 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589396 SCV000699306 benign not provided 2016-05-31 criteria provided, single submitter clinical testing Variant Summary: This intronic mutation involves the alteration of a nucleotide in the -12 position of intron 3 of BRCA1. The variant is present in the control population at a frequency of 0.03%, but is almost exclusively found in the African subpopulation, with a frequency of 0.3% This frequency is 3-fold the maximal expected allele frequency for a pathogenic variant in BRCA1, which is strong evidence that this is a benign polymorphism present mainly in populatons of African origin. This variant was also observed in trans with a known deleterious BRCA1 variant, further evidence of the benign nature of the variant. Multiple reputable clinical labs/databases have classified the variant as likely benign/benign. In additiona, 5/5 in silico tools via Alamut predict an impact on splicing as do prediction tools used in Mucaki_2011 however these findings have not been supported by functional studies. Taken together, this variant has been classified as benign.
Sharing Clinical Reports Project (SCRP) RCV000077183 SCV000108980 benign Breast-ovarian cancer, familial 1 2009-12-10 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077183 SCV000144217 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 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.