ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7060C>T (p.Gln2354Ter) (rs80358936)

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Total submissions: 9
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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) RCV000113702 SCV000301126 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 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 RCV000113702 SCV000327586 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484770 SCV000568125 pathogenic not provided 2017-11-03 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.7060C>T at the cDNA level and p.Gln2354Ter (Q2354X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with breast cancer (Duran 2003) and is considered pathogenic.
Ambry Genetics RCV000510038 SCV000607779 pathogenic Hereditary cancer-predisposing syndrome 2016-12-09 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)
Mendelics RCV000496490 SCV000838848 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000510038 SCV000906930 pathogenic Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113702 SCV000147014 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Department of Pediatrics,Memorial Sloan Kettering Cancer Center RCV000045134 SCV000564127 pathogenic Familial cancer of breast 2016-05-11 no assertion criteria provided clinical testing Variant detected in child with Osteosarcoma.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496490 SCV000587882 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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