3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes
    1
    1. ClingenBaseline 13 Nov 2026

      PatientID: 2

      KindredID: 6

      Case: 39Y0M, Sex and Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Recorded as a familial tumor; no other family info present

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Unilateral pheochromocytoma reported with an age at diagnosis of 39 years of age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111C (c.331A>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 565557 https://www.ncbi.nlm.nih.gov/clinvar/variation/565557/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111C (c.331A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:39 Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transversion CivicName:S111C(c.331A>T) ProteinPosition:111 cDNAposition:331 AminoAcidChange:SERtoCYS ClinVarID:565557 ClinVarID:Yes PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD PreviousTesting:SDHC Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1735500/
  3. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    2
    1. ClingenBaseline 12 Nov 2026
      331A→T Tv Exon 1 111 AGC S S111C

      A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this mutation p.S111C (c.331A>T) was found in 3 VHL patients. All 3 members were said to have retinal hemangioblastomas, while other manifestations are not clearly stated. No family information or relation was provided.

      ClinVarID:565557 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 12 Nov 2026
      331A→T Tv Exon 1 111 AGC S S111C

      GroupID: 21

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 3 patients are listed with this mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: all 3 members are said to have retinal HBs. Other manifestations are not clearly stated.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S111C (c.331A>T)

      CaseProblemVariantFreeText: N.A

      LegacyVariant: N/A

      ClinVarID: 565557 https://www.ncbi.nlm.nih.gov/clinvar/variation/565557/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S111C (c.331A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo Ethnicity:French DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AssumedRefSeq:NM_000551.3 Mutation:Germline ClinVarID:565557 ClinVarID:Yes ProteinPosition:111 cDNAposition:331 CivicName:S111C(c.331A>T) AminoAcidChange:SERtoCYS MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    iovs.arvojournals.org/article.aspx