ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7115C>G (p.Ser2372Ter) (rs80358943)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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) RCV000113711 SCV000301133 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113711 SCV000327593 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657591 SCV000779328 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7115C>G at the cDNA level and p.Ser2372Ter (S2372X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 7343C>G. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), 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 individual with pancreatic cancer (Furukawa 2015) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113711 SCV000147025 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 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.