ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2241del (p.Asp749fs) (rs80357650)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000077512 SCV000144353 pathogenic Breast-ovarian cancer, familial 1 1998-07-10 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077512 SCV000325304 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496653 SCV000591374 pathogenic Hereditary breast and ovarian cancer syndrome 2015-11-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077512 SCV000299729 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 RCV000496653 SCV000698932 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-01 criteria provided, single submitter clinical testing Variant summary: The c.2241delC variant leads to 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 (e.g.c.2411_2412delAG, c.2475delC) have been classified internally as pathogenic. This variant is not found in 121378 control chromosomes, however, it has been reported in several breast cancer patients. In addition, multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077512 SCV000296425 pathogenic Breast-ovarian cancer, familial 1 2016-02-06 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496653 SCV000587201 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077512 SCV000109312 pathogenic Breast-ovarian cancer, familial 1 2011-07-26 no assertion criteria provided clinical testing

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