ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3675C>A (p.Cys1225Ter) (rs879254023)

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Total submissions: 5
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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) RCV000239174 SCV000323648 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000236531 SCV000293200 pathogenic not provided 2015-09-30 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.3675C>A at the cDNA level and p.Cys1225Ter (C1225X) at the protein level. The substitution, also reported as 3794C>A (Nahleh 2015), creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGC>TGA), 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 association with breast cancer (Nahleh 2015) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239174 SCV000296479 likely pathogenic Breast-ovarian cancer, familial 1 2016-05-28 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000239174 SCV000325721 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000580011 SCV000683121 pathogenic Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing

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