ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter) (rs80359230)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000031836 SCV000147672 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031836 SCV000301405 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 RCV000519756 SCV000617477 likely pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9599C>G at the cDNA level and p.Ser3200Ter (S3200X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA). Also published as BRCA2 9827C>G using alternate nomenclature, this variant has been reported in at least two individuals with ovarian cancer (Risch 2006, Zhang 2011). Due to the position of the variant, nonsense-mediated decay is not expected to occur, but it might cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene contains both nuclear localization signals and the cyclin A binding domain (Esashi 2005, Borg 2010). BRCA2 Ser3200Ter was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Based on currently available evidence, we consider BRCA2 Ser3200Ter to be likely pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496835 SCV000588012 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031836 SCV000054444 pathogenic Breast-ovarian cancer, familial 2 2009-09-22 no assertion criteria provided clinical testing

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