2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 30 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 3682NCI

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the National Cancer Institute database, with an unknown number of members belonging to Family ID 3682NCI. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma. Additionally, this family ID is stated again in Table 3 under the mutation c.163delG. Unclear if this is a typo, or if multiple mutations belong to this one family.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151

      SupplementalData: N/A

      Variant: p.F76I (c.226T>A)

      LegacyVariant: p.F76I (c.439T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 820994 https://www.ncbi.nlm.nih.gov/clinvar/variation/820994/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F76I (c.226T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:226 CivicName:F76I(c.226T>A) ProteinPosition:76 AminoAcidChange:THRtoILE MutationType:missense_variant;transversion ClinVarID:820994 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 28 Oct 2026

      GroupID: 3682b

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 2 family members recorded with this mutation. Paper gives 2 families with the ID 3682 - the other family (given here as 3682a) was mentioned with 1 individual. Unclear if these are the same family.

      GroupPresentingHPOs: HP:0010797 (hemangioblastoma)

      GroupHPOFreeText: both (2/2) members had hemangioblastomas

      GroupNotHPOs: HP:0005584; HP:0009711; HP:0002666 (renal cell carcinoma, retinal capillary hemangioma, pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040

      SupplementalData: N/A

      Variant: p.F76I (c.226T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F147I (c.439T>A)

      ClinVarID: 820994 https://www.ncbi.nlm.nih.gov/clinvar/variation/820994/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: F76I (c.226T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma Mutation:Germline Familial FamilyCohort ClinVarID:Yes ClinVarID:820994 InheritancePattern:AutosomalDominant RefSeq:AF010238.1 MutationType:missense_variant;transversion AminoAcidChange:PHEtoILE CivicName:F76I(c.226T>A) ProteinPosition:76 cDNAposition:226 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109