ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589396 SCV000210059 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 21523855, 15829246, 16267036, 30209399)
Counsyl RCV000077183 SCV000220999 likely benign Breast-ovarian cancer, familial 1 2014-12-30 criteria provided, single submitter literature only
Invitae RCV001081745 SCV000252824 benign Hereditary breast and ovarian cancer syndrome 2020-12-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580482 SCV000683362 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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
Brotman Baty Institute,University of Washington RCV000077183 SCV001241833 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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