ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) (rs80359013)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
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) RCV000031706 SCV000301216 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000045335 SCV000073348 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2626 (p.Trp2626*). It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in the literature in multiple individuals affected with hereditary breast and ovarian cancer (PMID: 22970155, 25452441, 21218378, 26187060). This variant is also known as 8106G>A in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000217125 SCV000276739 pathogenic Hereditary cancer-predisposing syndrome 2017-11-14 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 RCV000237084 SCV000293484 pathogenic not provided 2017-06-11 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7878G>A at the cDNA level and p.Trp2626Ter (W2626X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also defined as BRCA2 8106G>A using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (Carney 2010, Kwong 2012, Couch 2015) and is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031706 SCV000327754 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031706 SCV000489210 pathogenic Breast-ovarian cancer, familial 2 2016-09-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045335 SCV000592154 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045335 SCV000695105 pathogenic Hereditary breast and ovarian cancer syndrome 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7878G>A (p.Trp2626*) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.7900delA (p.Met2634fsX14), c.7908T>A (p.C2636*) and c.7934delG (p.Arg2645fsX3)). This variant is absent in 121350 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Pathogenic. Taken together, this variant is classified as Pathogenic.
Color RCV000217125 SCV000906563 pathogenic Hereditary cancer-predisposing syndrome 2017-12-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031706 SCV000054313 pathogenic Breast-ovarian cancer, familial 2 2013-03-12 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031706 SCV000147207 uncertain significance Breast-ovarian cancer, familial 2 2013-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045335 SCV000587917 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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.