ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4787C>A (p.Ser1596Ter) (rs80357429)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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) RCV000661272 SCV000783537 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000486809 SCV000568386 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4787C>A at the cDNA level and p.Ser1596Ter (S1596X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>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 association with Hereditary Breast and Ovarian Cancer (Trujillano 2015, Bujassoum 2017) and is considered pathogenic.
Ambry Genetics RCV000509938 SCV000607856 pathogenic Hereditary cancer-predisposing syndrome 2017-02-27 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)

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.