ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4163dup (p.Ser1389fs) (rs80357788)

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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) RCV000112272 SCV000300083 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000586207 SCV000699095 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-22 criteria provided, single submitter clinical testing Variant summary: The c.4163dupA variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein, which is a commonly known mechanism for disease. Truncations downstream of this position, such as c.4165_4166delAG, c.4167delT, c.4167_4168delTG, c.4165_4166dupAG, have been classified as "Pathogenic". This variant has been reported in at least two BrC patients and is not found in 94812 control chromosomes. In addition, one reputable database classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112272 SCV000144999 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing

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