ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) (rs80357267)

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Total submissions: 7
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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) RCV000083175 SCV000282267 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 RCV000131894 SCV000186949 pathogenic Hereditary cancer-predisposing syndrome 2017-02-22 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)
GeneDx RCV000212165 SCV000210115 pathogenic not provided 2015-04-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.1916T>A at the cDNA level and p.Leu639Ter (L639X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also referred to as 2035T>A using alternate nomenclature, has been reported in Hereditary Breast and Ovarian Cancer families and is considered pathogenic (Gayther 1995).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083175 SCV000325180 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083175 SCV000115249 pathogenic Breast-ovarian cancer, familial 1 2011-05-10 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083175 SCV000144249 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496730 SCV000587167 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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