ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1297del (p.Ala433fs) (rs80357794)

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Total submissions: 7
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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) RCV000111585 SCV000299574 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 RCV000111585 SCV000325007 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496361 SCV000591322 pathogenic Hereditary breast and ovarian cancer syndrome 2015-07-10 criteria provided, single submitter clinical testing
Color RCV000579657 SCV000682946 pathogenic Hereditary cancer-predisposing syndrome 2017-04-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496361 SCV000698844 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-03 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1297delG (p.Ala433Profs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1326T>A, p.Cys442X; c.1360_1361delAG, p.Ser454fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121238 control chromosomes. The variant has been reported in affected individuals in the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111585 SCV000144053 pathogenic Breast-ovarian cancer, familial 1 2002-06-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496361 SCV000587120 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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