4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    1
    1. ClingenBaseline 03 Nov 2026

      PatientID: V48

      KindredID: V48

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      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

      Ethnicity:French InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:345 ProteinPosition:115 AminoAcidChange:HIStoGLN ClinVarID:496058 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:H115Q(c.345C>G) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/
  3. Oct 2026
  4. link.springer.com link.springer.com
    Conservative management of endolymphatic sac tumors in von Hippel–Lindau disease: case report
    2
    1. ClingenBaseline 27 Oct 2026
      c.345C>G, p.His115Gln

      Two cases of VHL patients presenting with an endolympathic sac tumor are reported. Genetic testing revealed the mutation: H115Q (c.345C>G) in the second patient. 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. Additional manifestations included: CNS hemangioblastoma and pancreatic cysts. During 18 years of surveillance, the endolympathic sac tumor increased in size following a two-phase growth pattern alternating phases of quiescence and phases of continuous growth.

      EvidenceStatement ClinVarID:496058 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. 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
  5. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 27 Oct 2026
      345C→G Tv Exon 2 115 CAC H H115Q

      A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, this missense mutation (p.H115Q (c.345C>G)) was found in a VHL patient without retinal hemangioblastomas. Other manifestations are not clearly stated. No family information was provided. This is possibly previously published in PMID: 15300849

      EvidenceStatement ClinVarID:496058 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx