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    A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma
    2
    1. ClingenBaseline 23 Oct 2026
      healthy

      PatientID: III-5

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: In the patient’s 12 member Chinese family, 7 members were found to carry the NM_000551.3:c.114delC mutation. Five had manifestations of CNS hemangioblastoma, and three of the five were deceased. The other member found to carry the mutation were asymptomatic, although the paper states that this is likely due to their young age.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that the patient is young, but no specific age is given.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G39Afs*28(c.114delC)

      LegacyVariant: p.G39Afs*28(c.327delC)

      ClinVarID: N/A

      CAID: CA2573047816, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573047816

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: G39Afs(c.114delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAPosition:114 ProteinPosition:39 AminoAcidChange:GLYtoALAfs*28 ClinVarID:N/A FamilyPedigree Familial MutationType:minus_1_frameshift_variant CAID:CA2573047816 CivicName:G39fs(c.114del) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      5

      PatientID: III-3

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: In the patient’s 12 member Chinese family, 7 members were found to carry the NM_000551.3:c.114delC mutation. Five had manifestations of CNS hemangioblastoma, and three of the five were deceased. The other two members found to carry the mutation were asymptomatic, although the paper states that this is likely due to their young age.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: The patient suffered from progressive severe neck pain and numbness of the left arm for 6 months. The patient was initially treated with opioids and antiinflammatory medications and wore rigid neck collars. Despite intense conservative therapy, the patient experienced inadequate pain relief and underwent resection of CNS hemangioblastoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G39Afs*28(c.114delC)

      LegacyVariant: p.G39Afs*28(c.327delC)

      ClinVarID: N/A

      CAID: CA2573047816, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573047816

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: G39Afs(c.114delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAPosition:114 ProteinPosition:39 AminoAcidChange:GLYtoALAfs*28 ClinVarID:N/A FamilyPedigree Familial CAID:CA2573047816 CivicName:G39fs(c.114del) MutationType:minus_1_frameshift_variant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    geneticsmr.com/articles/4358