ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter) (rs397509258)

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Total submissions: 4
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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) RCV000257181 SCV000323862 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 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 RCV000257181 SCV000326258 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657588 SCV000779325 pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5307T>A at the cDNA level and p.Tyr1769Ter (Y1769X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>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 a personal and/or family history of breast and/or ovarian cancer (Caux-Moncoutier 2011). Yeast transcription assay of variants in the BRCA1 COOH-terminal region characterized this variant as inactive, resulting in disruption of the BRCT domain (Hayes 2000). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657588 SCV000887719 pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing

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