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 09 Nov 2026

      PatientID: None (Mother)

      KindredID: 13

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Child of this patient presented with CNS hemangioblastoma, retinal angioma, renal carcinoma and a renal tumor <3cm in size and the c.436delC germline variant of the VHL gene.

      CasePresentingHPOs: HP:0006880; HP:0009713; HP:0001737 (Cerebellar hemangioblastoma, Spinal hemangioblastoma, Pancreatic cysts)

      CaseHPOFreeText: This patient was originally thought to be an asymptomatic carrier but was later discovered to have two occult hemangioblastomas (spinal and cerebellar) as well as multiple pancreatic cysts.

      CaseNotHPOs: N/A

      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:AssumedVHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticcysts 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. Nov 2026
  4. 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/