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 12 Nov 2026
      9MProband3c.499C > Tp.Arg167Trp2B47–474747, M484

      PatientID: Proband

      KindredID: 9

      Case: M, 47Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Niece presented with the same variant and CNS hemangioblastoma at 14Y, bilateral retinal hemangioblastoma at 26Y, RCC at 32Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 26Y and bilateral renal cysts at 32Y. Brother had a history of CNS hemangioblastoma but was not genetically confirmed.

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

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732; HP:0002666; HP:0000107; HP:0002315; HP:0002321 (Hemangioblastoma, Renal cell carcinoma, Abnormality of the pancreas, Pheochromocytoma, Renal cyst, Headache, Vertigo)

      CaseHPOFreeText: Presented with dizziness and headache, which he had experienced for the 3 months prior to examination. CNS hemangioblastoma at 47Y, RCC at 47Y, multiple pancreatic lesions (pancreatic cyst or tumor, unspecified) at 47Y, renal cyst at 48Y and pheochromocytoma at 47Y. Diagnosed with VHL Type 2B.

      CaseNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, https://gnomad.broadinstitute.org/variant/3-10191506-C-T?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:headache DiseaseEntity:vertigo AgeOfPresentation:hemangioblastoma:47 AgeOfPresentation:renalcellcarcinoma:47 AgeOfPresentation:pancreaticcysts:47 AgeOfPresentation:pheochromocytoma:47 AgeOfPresentation:renalcyst:48 AgeOfPresentation:headache:47 AgeOfPresentation:vertigo:47 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition CivicName:R167W(c.499C>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

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