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
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: None

      KindredID: 13

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Mother of this patient was also found to harbor the c.436delC germline variant of the VHL gene and presented with spinal and cerebellar hemangioblastomas and multiple pancreatic cysts.

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0005584; HP:0009726 (Retinal capillary hemangioma, Hemangioblastoma, Renal cell carcinoma, Renal neoplasm)

      CaseHPOFreeText: CNS hemangioblastoma, retinal angioma, renal carcinoma and a renal tumor <3cm in size.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P146Lfs*13 (c.436del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421892, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.436del

      gnomAD: N/A

      VariantEvidence: This variant was not found in 120 alleles from normal subjects in the Brazilian population.

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: P146fs (c.436del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalneoplasm Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:436 ProteinPosition:146 AminoAcidChange:PROtoLEU ClinVarID:N/A CAID:CA432421892 MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:P146fs(c.436del) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 27 Oct 2026
      PMID: 7977367

      KindredID: 9

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 9. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q145Hfs*28 (c.435_436delGC)

      LegacyVariant: p.215fs (c.648_649delGC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223210 https://www.ncbi.nlm.nih.gov/clinvar/variation/223210/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: Q145fs (c.435_436delGC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma ClinVarID:223210 ClinVarID:Yes Familial ProteinPosition:145 cDNAposition:435 cDNAposition:436 CivicName:Q145fs(c.435_436delGC) MutationType:minus_2_frameshift_variant AminoAcidChange:GLNtoHIS inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/