2 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
    1
    1. ClingenBaseline 22 Oct 2026

      GroupID: 3003

      DiseaseAssertion: assumed VHL

      GroupSize: 27

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Familial VHL stated; 27 family members recorded with this mutation.

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

      GroupHPOFreeText: 11/27 members had retinal angioma (hemangioma), 9 had CNS hemangioblastoma, and 5 had RCC

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 8956040 (type 1 3003NCI); 9829911

      SupplementalData: N/A

      Variant: p.S168Ifs*5 (c.502_503insTTGTTCGT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.239fs (c.715insTTGTTCGT)

      ClinVarID: N/A

      CAID: CA2573051075 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573051075

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_2_frameshift_variant

      CivicName: S168fs (c.502_503insTTGTTCGT)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ClinVarID:N/A CAID:CA2573051075 Familial FamilyCohort ProteinPosition:168 cDNAposition:502 AminoAcidChange:SERtoILE MutationType:plus_2_frameshift_variant CivicName:S168fs(c.502_503insTTGTTCGT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial and genetic researches on three Chinese families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 22 Oct 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: III-14

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Stated as carrier, however he is young (likely before the age of onset)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168T (c.503G>C)

      LegacyVariant: p.S168T (c.716G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:asymptomatic CivicName:S168T(c.503G>C) cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR MutationType:missense_variant;transversion CAID:CA351756183 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/19133167/