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    Differences in genetic and epigenetic alterations between von Hippel–Lindau disease–related and sporadic hemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 02 Nov 2026
      V1-122MCerebellumc.216delCChr. 3 LOH——Yes−224MCerebellumc.216delC———

      PatientID: V1

      KindredID: 1

      Case: M, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patient’s brother also had this germline mutation and at least one brainstem hemangioblastoma at 30 years old.

      CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)

      CaseHPOFreeText: Study reports 2 cerebellar hemangioblastomas at the ages of 22 and 24. Other phenotype information not provided.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table 2

      Variant: p.Q73Rfs*86 (c.216del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432536422, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA432536422

      gnomAD: N/A

      VariantEvidence: The c.216delC variant was not genetically confirmed to be germline but was found in tumor samples from both the siblings.

      MutationType: minus_1_frameshift_variant

      CivicName: S72fs (c.216delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:22 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:216 ProteinPosition:73 AminoAcidChange:GLNtoARG ClinVarID:N/A MutationType:minus_1_frameshift_variant CivicName:S72fs (c.216delC) Familial SupplementalData CAID:CA432536422 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5570160/