ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter) (rs80358434)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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) RCV000112924 SCV000300432 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000219957 SCV000275360 pathogenic Hereditary cancer-predisposing syndrome 2015-04-18 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112924 SCV000326557 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000112924 SCV000605658 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000520967 SCV000620196 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1456C>T at the cDNA level and p.Gln486Ter (Q486X) at the proteinlevel. Using alternate nomenclature this variant would be defined as BRCA2 1684C>T. The substitution creates anonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause lossof normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this varianthas not, to our knowledge, been reported in the literature, it is considered pathogenic
Counsyl RCV000112924 SCV000677669 likely pathogenic Breast-ovarian cancer, familial 2 2017-04-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496375 SCV000694539 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-10 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.1456C>T (p.Gln486X) 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. p.Gln499fsX14, p.Ser552fsX6, p.Leu557X, etc.). One in silico tool predicts a damaging outcome for this variant. This variant was absent in 120494 control chromosomes, but identified in several HBOC patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112924 SCV000145874 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496375 SCV000587598 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.