ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) (rs80358391)

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Total submissions: 11
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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) RCV000113128 SCV000300294 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 RCV000222288 SCV000275329 pathogenic Hereditary cancer-predisposing syndrome 2019-04-07 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneKor MSA RCV000043711 SCV000296806 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113128 SCV000326482 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496610 SCV000694493 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000657625 SCV000779368 pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.100G>T at the cDNA level and p.Glu34Ter (E34X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), 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 328G>T using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (van der Hout 2006, Teixeira 2018), as well as in at least one male with prostate and breast cancer (Ibrahim 2018). This variant is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657625 SCV000888969 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762914 SCV000893326 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113128 SCV000146161 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496610 SCV000587539 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113128 SCV000733206 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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