ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) (rs80359046)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571445 SCV000673071 pathogenic Hereditary cancer-predisposing syndrome 2016-02-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113864 SCV000147263 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113864 SCV000327812 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113864 SCV000220678 likely pathogenic Breast-ovarian cancer, familial 2 2014-09-09 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113864 SCV000744531 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113864 SCV000733312 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113864 SCV000301240 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657589 SCV000779326 pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8067T>A at the cDNA level and p.Cys2689Ter (C2689X) at the protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGT>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Using alternate nomenclature, this variant would be defined as BRCA2 8295T>A and has been reported in multiple individuals with personal and family histories consistent with hereditary breast cancer (Breast Cancer Linkage Consortium 1997, Litton 2000, Peelen 2000, van der Hout 2006, Bayraktar 2012). We consider this variant to be pathogenic.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113864 SCV000743340 pathogenic Breast-ovarian cancer, familial 2 2014-10-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000416520 SCV000494293 pathogenic Hereditary breast and ovarian cancer syndrome 2015-01-12 criteria provided, single submitter clinical testing
Mendelics RCV000416520 SCV000838866 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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