ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter) (rs80357468)

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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111553 SCV000299541 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131844 SCV000186899 pathogenic Hereditary cancer-predisposing syndrome 2014-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000235123 SCV000210098 pathogenic not provided 2015-12-31 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.1116G>A at the cDNA level and p.Trp372Ter (W372X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA) and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously reported as 1235G>A using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (Shattuck-Eidens 1997, Lee 2011, Couch 2015). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111553 SCV000296331 pathogenic Breast-ovarian cancer, familial 1 2015-04-27 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111553 SCV000324958 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111553 SCV000144015 pathogenic Breast-ovarian cancer, familial 1 1998-08-26 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496759 SCV000587107 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785203 SCV000923771 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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.