ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2331T>G (p.Tyr777Ter) (rs80357444)

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Total submissions: 3
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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) RCV000257516 SCV000323439 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 RCV000257516 SCV000325326 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484996 SCV000565709 pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2331T>G at the cDNA level and p.Tyr777Ter (Y777X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>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 at least one patient with serous ovarian cancer (Li 2014). This variant is considered pathogenic.

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