ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6078_6079del (p.Glu2028fs) (rs80359557)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113527 SCV000282419 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 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 RCV000113527 SCV000327346 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507291 SCV000600677 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509821 SCV000607778 pathogenic Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496245 SCV000694934 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6078_6079delAA (p.Glu2028Argfs) variant, alternatively also known as 6306delAA and/or 6306_6307delAA, results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay (NMD), which is commonly known mechanisms for disease. If NMD is escaped this variant is expected to truncate multiple functional regions and domains) (one BRCA2 repeat, helical domain, oligonucleotide/oligosaccharide-binding 1 region, OB-folds, and Tower domain; via InterPro). Truncations downstream of this position have been classified as pathogenic by our laboratory and others (e.g. c.6270_6271delTA, c.6275_6276delTT, c.6333_6337delGAGAA, etc.). This variant is absent in 120736 control chromosomes from ExAC. In a publication, this variant has been reported in three HBOC families without phenotypic and genotypic details in family members (Lubinski_2004). In ClinVar, this variant has been reported in four patients with breast and/or ovarian cancer by clinical laboratories (BIC and Invitae). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113527 SCV000146762 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496245 SCV000587821 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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