ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8002A>T (p.Arg2668Ter) (rs276174900)

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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113855 SCV000301231 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 RCV000113855 SCV000327794 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503440 SCV000592169 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV000569144 SCV000665030 pathogenic Hereditary cancer-predisposing syndrome 2017-05-01 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)
GeneKor MSA RCV000585730 SCV000693584 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000657634 SCV000779377 pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8002A>T at the cDNA level and p.Arg2668Ter (R2668X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously reported as BRCA2 8230A>T using alternate nomenclature, has been reported in association with familial breast and/or ovarian cancer (Maillet 2006, Tea 2014), and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113855 SCV000147247 pathogenic Breast-ovarian cancer, familial 2 2010-12-17 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.