ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) (rs80359393)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000082917 SCV000146041 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000082917 SCV000326897 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000496400 SCV000588065 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000082917 SCV000300286 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000486380 SCV000566348 pathogenic not provided 2015-04-22 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted BRCA2 c.36dupT at the cDNA level and p.Glu13Ter (E13X) at the protein level. The normal sequence, with the base that is duplicated in brackets, is ATTTTT[T]GAAA. The duplication creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.36dupT, previously reported as 264dupT and 265insT using alternate nomenclature, has been observed in at least one family with hereditary breast cancer (Vaziri 2001). This variant is considered pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496400 SCV000587528 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000082917 SCV000114991 pathogenic Breast-ovarian cancer, familial 2 2008-07-15 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.