ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8501del (p.Thr2834fs) (rs80359712)

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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) RCV000031749 SCV000301283 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031749 SCV000296695 pathogenic Breast-ovarian cancer, familial 2 2015-04-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031749 SCV000327911 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779921 SCV000916847 likely pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-03 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8501delC (p.Thr2834AsnfsX29) 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.8537_8538delAG (p.Glu2846fsX22), c.8546delA (p.Lys2849fsX14), and c.8575delC (p.Gln2859fsX4)). The variant was absent in 121292 control chromosomes (ExAC). To our knowledge, no occurrence of c.8501delC in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Multiple ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as "pathogenic." Based on the evidence outlined above, the variant was classified as likely pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031749 SCV000054356 pathogenic Breast-ovarian cancer, familial 2 2008-11-19 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031749 SCV000147384 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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