ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1141A>T (p.Lys381Ter) (rs80357385)

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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) RCV000111561 SCV000299549 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000111561 SCV000324967 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779890 SCV000916780 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-11 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1141A>T (p.Lys381X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 245912 control chromosomes (gnomAD). The variant, c.1141A>T, has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer ((Garcia-Patino_1998, Lang_2017, Rebbeck_2018, Shi_2017, Keshavarzi_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111561 SCV000144024 pathogenic Breast-ovarian cancer, familial 1 2007-01-18 no assertion criteria provided clinical testing

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