1 Matching Annotations
  1. Last 7 days
  2. www.spandidos-publications.com www.spandidos-publications.com
    p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees
    1
    1. ClingenBaseline 30 Oct 2026
      F1-II-3

      PatientID: F1-II-3

      KindredID: 1

      Case: M, 30Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: This patients brother (F1-II-1) was a 31-year old male patient with pheochromocytoma, renal cell carcinoma, and epididymal papillary adenoma. The patients nephew (F1-III-1) was a 5 year old male with no clinical presentation, yet had the same VHL mutation.

      CasePresentingHPOs: HP:0005584, HP:0030421, HP:0001737 (renal cell carcinoma, epididymal neoplasm, pancreatic cysts)

      CaseHPOFreeText: presented with multiple right renal masses, epididymal nodules and multiple pancreatic cysts

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      LegacyVariant: N/A

      ClinVar: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: CA020131

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 MutationType:missense_variant;transition CivicName:N78S(c.233A>G) PreviousTesting:RET cDNAposition:233 DiseaseEntity:renalcellcarcinoma DiseaseEntity:epididymalneoplasm DiseaseEntity:pancreaticcysts FamilyPedigree CAID:CA020131 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    spandidos-publications.com/mmr/8/3/799