ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1833dup (rs876660425)

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) RCV000661334 SCV000783604 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000218586 SCV000277836 pathogenic Hereditary cancer-predisposing syndrome 2015-08-11 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 RCV000485542 SCV000570813 pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA1 is denoted c.2666dupC at the cDNA level and p.Gly890TrpfsX13 (G890WfsX13) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 2785dupC or 2785insC. The normal sequence, with the base that is duplicated in braces, is CACT[C]TGGG. The duplication causes a frameshift which changes a Glycine to a Tryptophan at codon 890, and creates a premature stop codon at position 13 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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.