ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer) (rs786202156)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164830 SCV000215513 pathogenic Hereditary cancer-predisposing syndrome 2014-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241457 SCV000300338 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000637507 SCV000758968 pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu198*) 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 185415). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506231 SCV000600670 pathogenic not provided 2016-12-31 criteria provided, single submitter clinical testing

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