ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter) (rs80357497)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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) RCV000111967 SCV000299855 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111967 SCV000296370 pathogenic Breast-ovarian cancer, familial 1 2015-08-04 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111967 SCV000325500 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000510090 SCV000608203 pathogenic Hereditary cancer-predisposing syndrome 2016-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657620 SCV000779363 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2923C>T at the cDNA level and p.Gln975Ter (Q975X) at the protein level. Using alternate nomenclature, this variant has been published as BRCA1 3042C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one family with hereditary breast and ovarian cancer (Balz 2002) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111967 SCV000144584 pathogenic Breast-ovarian cancer, familial 1 1999-04-06 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.