2 Matching Annotations
  1. Last 7 days
  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    1
    1. ClingenBaseline 05 Nov 2026
      386insCT Fs Exon 2 129 CTG L Stop131

      GroupID: 29

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: None - one member documented here

      CasePresentingHPOs: N/A

      CaseHPOFreeText: other manifestations are not clearly stated.

      CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.V130Wfs*30 (c.386_387insCT)

      CaseProblemVariantFreeText: recorded in paper as c.386insCT, this automaps to NM_000551.3:c.385_386dupCT

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2573130306 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.385_386dup

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication

      CivicName: V130fs (c.385_386dup)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:385 CivicName:V130fs(c.385_386dup) MutationType:duplication ProteinPosition:130 AminoAcidChange:VALtoTRP ClinVarID:N/A CAID:CA2573130306 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    1
    1. ClingenBaseline 30 Oct 2026
      17 (22%) had frameshift variants

      PatientID: 14

      KindredID: 14

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0100634 (hemangioblastoma; clear cell renal cell carcinoma; Neuroendocrine neoplasm)

      CaseHPOFreeText: patient had CNS hemangioblastoma, ccRCC and a neuroendocrine neoplasm reported as pheochromocytoma/paraganglioma.

      CaseNotHPOs: HP:0030405; HP:0009711; HP:0030421 (pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V130Wfs*30 (c.385_386dup)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: p.Leu128fs (c.385_386dupCT) does not verify. Contacted authors for clarification and confirmation of c.385_386dup; p.Val130Trpfs*30 as the correct mutation

      ClinVarID: N/A

      CAID: CA2573130306 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.385_386dup

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: V130Wfs*30 (c.385_386dup)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:neuroendocrineneoplasm CivicName:V130Wfs*30(c.385_386dup) cDNAposition:385 MutationType:plus_1_frameshift_variant ProteinPosition:130 AminoAcidChange:VALtoTRP ClinVarID:N/A Mutation:Germline NoFamilyInfo SupplementalData RefSeq:NM_000551.3 CAID:CA2573130306 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613