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: 79CA

      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 Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 79CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      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: N/A

      SupplementalData: N/A

      Variant: p.I180V (c.538A>G)

      LegacyVariant: p.I180V (c.751A>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 161401 https://www.ncbi.nlm.nih.gov/clinvar/variation/161401/

      CAID: N/A

      gnomAD: 0.00001061 https://gnomad.broadinstitute.org/variant/3-10191545-A-G

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transition

      CivicName: I180V (c.538A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma CivicName:I180V(c.538A>G) cDNAposition:538 ProteinPosition:180 AminoAcidChange:ILEtoVAL MutationType:missense_variant;transition ClinVarID:161401 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/8956040/
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: 85

      Case: 27Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation (c.538A>G) was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: patient had RCCs diagnosed at 27Y

      CaseNotHPOs: HP:0009711; HP:0006880; HP:0002666 (retinal capillary hemangioma; cerebellar hemangioblastoma; pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.I180V (c.538A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 161401 https://www.ncbi.nlm.nih.gov/clinvar/variation/161401/

      CAID: N/A

      gnomAD: 0.00001061 https://gnomad.broadinstitute.org/variant/3-10191545-A-G

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: I180V (c.538A>G)

      MultipleGeneVariants: N/A

      ClinVarID:161401 ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:27 cDNAposition:538 cDNAposition:180 AminoAcidChange:ILEtoVAL CivicName:I180V(c.538A>G) MutationType:missense_variant;transition Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant NoFamilyInfo RefSeq:NM_000551.2 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385