ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2868del (p.Gln957fs) (rs80357929)

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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) RCV000111952 SCV000299846 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
University of Washington Department of Laboratory Medicine, University of Washington RCV000111952 SCV000266029 pathogenic Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111952 SCV000325484 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590751 SCV000698983 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-22 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2868delT (p.Gln957Serfs) 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. p.Arg1751X, p.Gln1779X, p.Ser1796X, etc.). This variant is absent in 121346 control chromosomes from ExAC. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. This variant has been reported in at least two HBOC patients in literature (Judkins_2005, Shirts_2016). Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111952 SCV000144565 pathogenic Breast-ovarian cancer, familial 1 2001-10-29 no assertion criteria provided clinical testing

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