ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4531_4532CA[1] (p.His1511fs) (rs80357534)

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Total submissions: 6
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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) RCV000112354 SCV000300136 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 RCV000112354 SCV000325994 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000112354 SCV000488311 pathogenic Breast-ovarian cancer, familial 1 2016-02-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781010 SCV000918759 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4533_4534delCA (p.His1511GlnfsX9) variant (also known as 4650delCA and 4652delCA) 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.Glu1694X, p.Gln1747X, p.Arg1835X, etc.). This variant is absent in 277114 control chromosomes (gnomAD). This variant has been reported in at least four unrelated HBOC patients in literature (Meisel_2017, Judkins_2005, Meindl_2002, Meindl_2000). Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112354 SCV000145115 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785415 SCV000923987 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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