1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 10 Nov 2026
      5330Y33Y49YNYYYc.499C>TExon 3p.Arg167TrpMissense

      PatientID: 5

      KindredID: 3

      Case: Sex Unknown, 49Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0002668, HP:0002666; HP:0030405; HP:0005584; HP:0010797; HP:0001737; HP:0009711 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor, renal cell carcinoma, hemangioblastoma, pancreatic cyst, retinal capillary hemangioma)

      CaseHPOFreeText: The patient developed PPGL at 33Y of age, and a PNET at 49Y. They were also recorded with all of the above manifestations

      CaseNotHPOs: HP:0000107 (renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:33 AgeOfPresentation:pheochromocytoma:33 DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:49 DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:2218 ClinVarID:Yes ProteinPosition:167 CivicName:R167W(c.499C>T) cDNAposition:499 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition NoFamilyInfo Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/