ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.961C>T (p.Gln321Ter) (rs80359234)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217571 SCV000275365 pathogenic Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112867 SCV000145795 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000217571 SCV000689212 pathogenic Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112867 SCV000328158 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112867 SCV000300376 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 RCV000657627 SCV000779370 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.961C>T at the cDNA level and p.Gln321Ter (Q321X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 1189C>T. This 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 at least one individual with colon cancer, multiple individuals with breast cancer, and in at least one individual with a personal and family history of breast cancer (Frank 1998, Adem 2003, Spearman 2008, Dworkin 2009, Pearlman 2017, Sun 2017). BRCA2 Gln321Ter is considered pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496598 SCV000587576 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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