ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter) (rs80356908)

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Total submissions: 6
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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) RCV000111533 SCV000299528 pathogenic Breast-ovarian cancer, familial 1 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 RCV000111533 SCV000324941 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000111533 SCV000564293 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000486647 SCV000568429 pathogenic not provided 2016-04-02 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1058G>A at the cDNA level and p.Trp353Ter (W353X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 1177G>A. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG) , 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 individuals with breast and/or ovarian cancer (Hakansson 1997, Staff 2001, Loman 2001) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111533 SCV000143990 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496789 SCV000587096 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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