ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3336del (p.Glu1113fs) (rs398122763)

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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) RCV000077706 SCV000300621 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Michigan Medical Genetics Laboratories,University of Michigan RCV000077706 SCV000267757 pathogenic Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077706 SCV000296662 pathogenic Breast-ovarian cancer, familial 2 2015-06-03 criteria provided, single submitter clinical testing
Counsyl RCV000077706 SCV000489566 likely pathogenic Breast-ovarian cancer, familial 2 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV001232803 SCV001405372 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1113Asnfs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91798). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077706 SCV000109509 pathogenic Breast-ovarian cancer, familial 2 2007-06-11 no assertion criteria provided clinical testing

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