3 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 30 Oct 2026
      PMID: 7977367

      PatientID: N/A

      KindredID: A-498 (cell line)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Renal cell carcinoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: Described as sporadic RCC from cell line A-498

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D143Tfs*29 (c.426_430del)

      LegacyVariant: p.213fs (c.639_642del4)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131758 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131758

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: minus_1_frameshift_variant

      CivicName: D143fs (c.426_430del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant RefSeq:AF010238.1 Mutation:Germline DiseaseEntity:renalcellcarcinoma cDNAposition:426 cDNAposition:430 ProteinPosition:143 MutationType:minus_1_frameshift_variant CivicName:D143fs(c.426_430del) CAID:CA2573131758 ClinVarID:N/A AminoAcidChange:ASPtoTHR NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/
  3. Oct 2026
  4. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    An elusive phaeochromocytoma
    1
    1. ClingenBaseline 28 Oct 2026
      Although two of her three children have inherited the mutation, they have had no disease manifestations.

      PatientID: None (Child 2)

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Awaiting testing of the proband’s eight siblings to determine whether or not this is a de novo mutation causing VHL disease. Two of three of the proband’s children have inherited the mutation, they have had no disease manifestations.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G144R (c.430G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 576437, https://www.ncbi.nlm.nih.gov/clinvar/variation/576437/

      CAID: N/A

      gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G144R (c.430G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:430 ProteinPosition:144 AminoAcidChange:GLYtoARG ClinVarID:576437 ClinVarID:Yes MutationType:missense_variant;transition CivicName:G144R(c.430G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.5694/j.1326-5377.2011.tb04146.x
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026

      PatientID: N/A

      KindredID: 442

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states: Germline, de novo (no clear confirmation)

      CasePresentingHPOs: HP:0005584; HP:0010797 (renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: Bilateral RCC and a hemangioblastoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.G144* (c.430G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223208 https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: G144* (c.430G>T)

      MultipleGeneVariants: N/A

      Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL InheritancePattern:DeNovoAssertion DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma CivicName:G144*(c.430G>T) cDNAposition:430 ProteinPosition:144 MutationType:stop_gained AminoAcidChange:GLYtoTER ClinVarID:223208 ClinVarID:Yes NonFamilial ExperimentalAssay SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219