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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
    1
    1. ClingenBaseline 14 Nov 2026
      p.Tyr98His

      PatientID: 3

      KindredID: C

      Case: F, 40Y0M, Ethnicity Unknown

      DiseaseAssertion: Hemangioblastoma

      FamilyInfo: Positive: The patient’s sister, one of two brothers, and mother each had the same germline mutation, although without any manifestations. As such, her family history was negative for kidney cancer, hemangioblastoma, or other features of VHL. See Fig. 3.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: In 2013, at 32Y, patient presented with a hemangioblastoma in her cerebellar region.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: No other VHL- related tumors are present in this patient.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: p.L63fs*4 (c.188_188T>TG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: NM_000551.3:c.188_188T>TG automapped to c.189dupG, (p.R64Afs*68)

      ClinVarID: 496050 https://www.ncbi.nlm.nih.gov/clinvar/variation/496050/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: R64fs (c.189dupG)

      MultipleGeneVariants: Germline, VHL,c.241C>T (p.Pro81Ser)

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:32 cDNAposition:189 ProteinPosition:64 CivicName:R64fs(c.189dupG) AminoAcidChange:ARGtoALA MutationType:duplication MutationType:plus_1_frameshift_variant MultipleVHLVariants Familial FamilyPedigree SupplementalData ClinVarID:496050 ClinVarID:Yes Mutation:Somatic inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/34628056/