ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8533dup (p.Arg2845fs) (rs397507990)

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Total submissions: 2
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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) RCV000505274 SCV000783811 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Istenhegyi Gendiagnosztika Kft RCV000505274 SCV000599465 likely pathogenic Breast-ovarian cancer, familial 2 2017-08-25 criteria provided, single submitter provider interpretation Patient was diagnosed with breast cancer at age 48 (ER 100%, PR 70%, HER2 FISH neg). Sister (at age 37) and father's aunt (at age 48) were diagnosed with breast cancer. This BRCA gene variatn c.8560_8531insA results in a frameshift mutation and causes truncation of the protein. The variant encodes 2867 aminoacids (wide type is 3418 AA). Considering the effect of this insertion, it was classified as a likely pathogenic mutation.

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