ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8930del (p.Tyr2977fs) (rs869320799)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566832 SCV000661218 pathogenic Hereditary cancer-predisposing syndrome 2017-02-09 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000211026 SCV000327992 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000211026 SCV000677760 pathogenic Breast-ovarian cancer, familial 2 2017-05-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000211026 SCV000324711 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000239309 SCV000296837 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496620 SCV000695193 pathogenic Hereditary breast and ovarian cancer syndrome 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8930delA (p.Tyr2977Phefs) 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.8961_8964delGAGT, c.8970G>A, and c.8978C>G). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121434 control chromosomes and has been reported in multiple affected individuals via publications. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified pathogenic.
Invitae RCV000496620 SCV000635703 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2977Phefs*11) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant has been reported in the literature in individuals affected with breast and/or ovarian cancer (PMID: 24010542, 25395318). This variant is also known as 9158delA and c.8929_8929delA in the literature. ClinVar contains an entry for this variant (Variation ID: 225755). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Michigan Medical Genetics Laboratories,University of Michigan RCV000211026 SCV000267824 pathogenic Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211026 SCV000296753 pathogenic Breast-ovarian cancer, familial 2 2015-11-18 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496620 SCV000587977 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.