ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter) (rs62625303)

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Total submissions: 8
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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) RCV000111626 SCV000282259 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131842 SCV000186897 pathogenic Hereditary cancer-predisposing syndrome 2016-09-15 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111626 SCV000325077 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496566 SCV000591334 pathogenic Hereditary breast and ovarian cancer syndrome 2012-03-11 criteria provided, single submitter clinical testing
Color RCV000131842 SCV000688339 pathogenic Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000657622 SCV000779365 pathogenic not provided 2016-03-24 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1471C>T at the cDNA level and p.Gln491Ter (Q491X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also published as BRCA1 c.1590C>T, has been reported in association with breast and/or ovarian cancer (Rashid 2006, Churpek 2015) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111626 SCV000144105 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 RCV000496566 SCV000587138 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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