2 Matching Annotations
  1. Last 7 days
  2. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    2
    1. ClingenBaseline 21 Oct 2026
      c.269A>T p.Asn90Ile

      PatientID: I:1

      KindredID: 4

      Case: F, 63Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s one son (II:3) was found with the same mutation and hemangioblastoma at 22Y and retinal capillary hemangioma at 32Y. Her other son (II:1) died before diagnosis; thus no DNA sample available. He presented with hemangioblastoma at 19Y

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: patient had RCC at 63Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N90I (c.269A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223172 https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N90I (c.269A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:63 ClinVarID:223172 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 Familial ExperimentalAssay FamilyPedigree ProteinPosition:90 AminoAcidChange:ASNtoILE CivicName:N90I(c.269A>T) cDNAposition:269 MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      c.269A>T p.Asn90Ile

      PatientID: I:1

      KindredID: 4

      Case: F, 63Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s one son (II:3) was found with the same mutation and hemangioblastoma at 22Y and retinal capillary hemangioma at 32Y. Her other son (II:1) died before diagnosis; thus no DNA sample available. He presented with hemangioblastoma at 19Y

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: patient had RCC at 63Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N90I (c.269A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223172 https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N90I (c.269A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:63 ClinVarID:223172 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 Familial ExperimentalAssay FamilyPedigree ProteinPosition:90 AminoAcidChange:ASNtoILE CivicName:N90I(c.269A>T) cDNAposition:269 MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    cancerres.aacrjournals.org/content/74/14/3802