ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) (rs397508009)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077453 SCV000327971 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077453 SCV000154093 likely pathogenic Breast-ovarian cancer, familial 2 2014-03-29 criteria provided, single submitter literature only
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077453 SCV000300368 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 RCV000520572 SCV000617463 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.880G>T at the cDNA level and p.Glu294Ter (E294X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon(GAA>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 breast and ovarian cancer (Yang 2011, Kim2012) and is considered pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077453 SCV000109251 pathogenic Breast-ovarian cancer, familial 2 2012-07-05 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.