1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    1
    1. ClingenBaseline 25 Oct 2026
      FDaughter1c.160_161delATp.Met54Glyfs*77135–35–35, M35, B–

      PatientID: Daughter

      KindredID: 1

      Case: F, 35Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Father and brother presented with the same VHL mutation. Brother presented with a meningioma, pancreatic lesions and bilateral renal cysts all at 38Y. Father presented with cerebellar hemangioblastoma 49Y, retinal hemangioblastoma 64Y, bilateral renal cell carcinoma 51Y and multiple pancreatic neuroendocrine tumors 64Y.

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

      CasePresentingHPOs: HP:0006880; HP:0005584; HP:0030405; HP:0000107 (Cerebellar hemangioblastoma, Renal cell carcinoma, Pancreatic endocrine tumor, Renal cyst)

      CaseHPOFreeText: Cerebellar hemangioblastoma, renal cell carcinoma, multiple pancreatic neuroendocrine tumors and bilateral renal cysts all at 35Y. Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.M54Gfs*77 (c.160_161del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189210, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.160_161del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: M54Gfs*77 (c.160_161delAT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:renalcellcarcinoma:35 AgeOfPresentation:renalcyst:35 AgeOfPresentation:pancreaticendocrinetumor:35 AgeOfPresentation:cerebellarhemangioblastoma:35 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:160 ProteinPosition:54 AminoAcidChange:METtoGLY ClinVarID:N/A CAID:CA913189210 MutationType:deletion MutationType:minus_2_frameshift_variant CivicName:M54Gfs*77(c.160_161delAT) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/