2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus
    1
    1. ClingenBaseline 04 Nov 2026
      In addition, her younger brother underwent brain surgery in his teens due to brain hemangioblastoma. He had not been diagnosed with diabetes mellitus.

      PatientID: III-3

      KindredID: 1

      Case: M, Age Unknown, Korean

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: His family members had features apparently related to VHL disease. His grandmother was troubled with severe headache during her lifetime, though the cause of death was unclear. His father was diagnosed with brain hemangioblastoma, which was his cause of death. In addition, his sister had various VHL phenotypes. His sister was tested with the same mutation, while whereas his other, clinically unaffected sister did not.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: underwent brain surgery in his teens due to brain hemangioblastoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Not diagnosed with diabetes mellitus

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98Tfs*61 (c.291delC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432420512 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.291delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: Y98fs (c.291delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma Familial FamilyPedigree AminoAcidChange:TYRtoTHR ProteinPosition:98 CivicName:Y98fs(c.291delC) cDNAposition:291 MutationType:minus_1_frameshift_variant CAID:CA432420512 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3871045/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus
    1
    1. ClingenBaseline 28 Oct 2026
      Her father, who had diabetes mellitus requiring insulin therapy, underwent brain surgery twice and was diagnosed with brain hemangioblastoma, which was his cause of death

      PatientID: II-4

      KindredID: 1

      Case: M, Age Unknown (deceased), Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: His family members had features apparently related to VHL disease. His mother was troubled with severe headache during her lifetime, though the cause of death was unclear. His son was diagnosed with brain hemangioblastoma, and his daughter had various VHL phenotypes. His daughter and son were tested with the same mutation, and so it was assumed that he did too

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: He had diabetes mellitus requiring insulin therapy, underwent brain surgery twice and was diagnosed with brain hemangioblastoma, which was his cause of death

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98Tfs*61 (c.291delC) [assumed]

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432420512 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.291delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: Y98fs (c.291delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial FamilyPedigree AssumedRefSeq:NM_000551.3 Mutation:Germline CAID:CA432420512 ClinVarID:N/A MutationType:minus_1_frameshift_variant ProteinPosition:98 CivicName:Y98fs(c.291delC) cDNAposition:291 AminoAcidChange:TYRtoTHR DiseaseEntity:hemangioblastoma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3871045/