3 Matching Annotations
  1. Last 7 days
  2. www-karger-com.myaccess.library.utoronto.ca www-karger-com.myaccess.library.utoronto.ca
    Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: 12

      KindredID: N/A

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: The authors evaluated 64 VHL patients (32 women and 32 men) with renal involvement of whom 54/64 had undergone renal surgery or a radiofrequency thermal ablation procedure for RCC. In 10/64 VHL patients, at least one or more RCC were diagnosed, however at the time of diagnosis an indication for treatment was not yet present. For all patients several CT/MRI scans existed for retrospective description of tumour growth kinetics.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: This is a tumor resolution study (VHL patients were investigated based on the presence of renal tumors.) No other phenotypic information is available.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1 describes 19 patients with missense mutations, including this patient.

      Variant: p.H115R(c.344A>G)

      LegacyVariant: c.557A>G

      CaseProblemVariantFreeText: N/A

      ClinVarID: 664415, https://www.ncbi.nlm.nih.gov/clinvar/variation/664415/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: H115R (c.344A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL AssumedRefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma MutationType:missense_variant;transition cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoARG ClinVarID:664415 CivicName:H115R(c.344A>G) ClinVarID:Yes NoFamilyInfo SupplementalData inferred_gene_hgnc:19191 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-karger-com.myaccess.library.utoronto.ca/Article/Abstract/333348
  3. 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 25 Oct 2026
      91Yes3111––344 del A2Frameshift at aa 115hFrameshiftNovel

      GroupID: None

      KindredID:9

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed/Latino

      GroupAgeRange: N/A

      GroupInfo: Three members of a South American family expressed this c.344delA mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Pfs*44 (c.344delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:N/A

      CAID: CA70049370 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H115Pfs*44(c.344delA) and P61=(c.183C>G)

      MultipleGeneVariants: Germline, VHL,c.c.183C>G (p.Pro61Pro)

      ClinVarID:N/A InheritancePattern:AutosomalDominant Familial Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoPRO CAID:CA70049370 MultipleVHLVariants MutationType:minus_1_frameshift_variant Ethnicity:AmericanAdmixed/Latino FamilyCohort CivicName:H115Pfs*44(c.344delA)andP61=(c.183C>G) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/
  4. link.springer.com link.springer.com
    Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report
    1
    1. ClingenBaseline 22 Oct 2026
      Patient 2 The second patient had a familial history of VHL disease but had never been screened for central nervous system manifestations when she experienced a sudden left hearing loss at 18 years old. The MRI revealed a left mass of the temporal bone invading the otic capsule but without extension in the cerebellopontine angle (Fig. 1) and also a cystic hemangioblastoma of the brainstem with significant mass burden but no associated symptoms. It was decided to operate on the hemangioblastoma first due to its size and location and the endolymphatic sac tumor remained under surveillance. The MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm. Apart from central nervous systems hemangioblastomas, the patient developed pancreatic cysts in the course of her VHL disease. The germline mutation of the VHL gene was also identified (c.345C>G, p.His115Gln). During 18 years of surveillance, the tumor increased in size following a two-phase growth pattern alternating phases of quiescence and phases of continuous growth (Fig. 2). Apart from her left cophosis, she did not suffer from any vestibular symptoms and the rest of her neurological exam remained normal. As tumor did not develop in the cerebellopontine angle and did not threaten the brainstem, it was decided to postpone surgery and the patient remains under surveillance.

      PatientID: 2

      KindredID: 2

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial history of VHL disease

      CasePresentingHPOs: HP:0030393; HP:0010797; HP:0001737 (endolymphatic sac tumor, hemangioblastoma, pancreatic cysts)

      CaseHPOFreeText: at 18Y experienced a sudden left hearing loss (MRI revealed hemangioblastomas of the temporal bone invading the otic capsule; operated on; the MTD of the endolymphatic sac tumor at diagnosis was 1.9 cm). The patient also developed pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Q (c.345C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496058 https://www.ncbi.nlm.nih.gov/clinvar/variation/496058/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: H115Q (c.345C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL InheritancePattern:AutosomalDominant DiseaseEntity:endolymphaticsactumor DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeOfPresentation:endolymphaticsactumor:18 AminoAcidChange:HIStoGLN ProteinPosition:115 cDNAposition:345 ClinVarID:496058 ClinVarID:Yes Familial MutationType:missense_variant;transversion CivicName:H115Q(c.345C>G) Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s00701-010-0873-5