3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    2
    1. ClingenBaseline 24 Oct 2026

      In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This frameshift mutation was found in 3 family members with VHL (Family ID 3575), using PCR and SSCP sequencing. The mutation of c.448delA was referred to in the paper by c.661delA due to a difference in transcript sequence. 2/3 members had retinal angiomas (hemangiomas), 1 had CNS hemangioblastoma and 1 had renal cell carcinoma.

      ClinVarID:195093 EvidenceStatement inferred_gene_hgnc:12601 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 23 Oct 2026

      GroupID: 3575

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 3 family members recorded with this mutation.

      GroupPresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: 2/3 members had retinal angiomas (hemangiomas), 1 had CNS hemangioblastoma and 1 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N150Ifs*9 (c.448delA)

      CaseProblemVariantFreeText: NM_000551.3:c.448delA adjusts to up to date to NM_000551.4:c.449delA

      LegacyVariant: p.221fs (c.661delA)

      ClinVarID: 195093 https://www.ncbi.nlm.nih.gov/clinvar/variation/195093/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: N150fs (c.448delA)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:150 cDNAposition:448 CivicName:N150fs(c.448delA) MutationType:minus_1_frameshift_variant ClinVarID:195093 ClinVarID:Yes Familial FamilyCohort InheritancePattern:AutosomalDominant AminoAcidChange:ASNtoILE inferred_gene_hgnc:12601 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. link.springer.com link.springer.com
    Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families
    1
    1. ClingenBaseline 22 Oct 2026
      661del A

      27 index patients suspected of having VHL disease from unrelated Chinese families and their relatives were studied. The nucleotide were numbered according to the sequence numbering by Latif et al, 1993 and this was converted to NM_000551.3. The paper did not differentiate between a pancreatic cysts and tumor and presented these together as a 'pancreatic lesion'. The paper summarized the phenotypes of the families together. Family 16 was found with frameshift mutation in the VHL gene: 3/5 members had CNS hemangioblastoma, 2/5 had retinal angioma, 2/5 had RCC, and 4/5 had a pancreatic lesion.

      ClinVarID:195093 EvidenceStatement inferred_gene_hgnc:12601 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00432-008-0399-x