ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5763dupT (p.Ala1922Cysfs) (rs80359534)

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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) RCV000113479 SCV000300927 pathogenic Breast-ovarian cancer, familial 2 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 RCV000113479 SCV000327277 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000580772 SCV000683732 pathogenic Hereditary cancer-predisposing syndrome 2016-05-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781089 SCV000918906 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-30 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5763dupT (p.Ala1922CysfsX2) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.5796_5797delTA, p.His1932fsX12; c.5799_5802delCCAA, p.Asn1933fsX29; c.5828delC, p.Ser1943fsX20). The variant was absent in 121048 control chromosomes. c.5763dupT has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Machackova_2008, Mateju_2010, Pohlreich_2005). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113479 SCV000146691 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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