2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    2
    1. ClingenBaseline 03 Nov 2026

      GroupID: 7

      DiseaseAssertion: VHL

      GroupSize: 5

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Family of 5 VHL Type 1 affected individuals.

      GroupPresentingHPOs: HP:0009711; HP:0010797; HP:0005584; HP:0002668 (Retinal capillary hemangioma, Hemangioblastoma, Renal cell carcinoma, Paraganglioma)

      GroupHPOFreeText: CNS hemangioblastoma (4/5 affected members), renal carcinoma (2/5 affected members) and retinal angioma (3/5 affected members). The proband presented with one tumor which biopsy showed to be a non-functional paraganglioma

      GroupNotHPOs: HP:0002894; HP:0002666 (Neoplasm of the pancreas, Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R107P (c.320G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 36900, https://www.ncbi.nlm.nih.gov/clinvar/variation/36900/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: R107P (c.320G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:paraganglioma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:320 ProteinPosition:107 AminoAcidChange:ARGtoPRO ClinVarID:36900 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R107P(c.320G>C) FamilyCohort Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026

      Germline mutations were found in 20 Brazilian, VHL probands and their families. The R107P (c.320G>C) germline missense mutation was found in a VHL type 1 family of 5 individuals, 4 with hemangioblastomas of the central nervous system, 3 with retinal angiomas, 2 with renal carcinoma, and a proband that presented with a non-functional paraganglioma (VHL family 7).

      EvidenceStatement ClinVarID:36900 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/12624160/