ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs)

dbSNP: rs2137622356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478872 SCV004220635 pathogenic not provided 2023-08-24 criteria provided, single submitter clinical testing The BRCA2 c.8995_8996del (p.Leu2999Valfs*18) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in individuals with breast cancer (PMIDs: 32341426 (2020), 32658311 (2021)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001554316 SCV001774836 likely pathogenic Breast carcinoma 2021-08-08 no assertion criteria provided clinical testing appendix cancer

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