2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 1

      KindredID: 86

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: two RCC tumors were detected in this patient

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77Lfs*55 (c.227_228insC)

      CaseProblemVariantFreeText: NM_000551.3:c.227_228insC automapped to NM_000551.3:c.228dupC

      LegacyVariant: p.76 FS (c.441insC)

      ClinVarID: N/A

      CAID: CA658795177 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_228insC

      gnomAD: N/A

      VariantEvidence: Tested the tumors for somatic mutations but did not detect any

      MutationType: plus_1_frameshift_variant

      CivicName: C77fs (c.228dup)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma InheritancePattern:AutosomalDominant NoFamilyInfo CAID:CA658795177 ClinVarID:N/A RefSeq:AF010238.1 Mutation:Germline CivicName:C77fs(c.228dup) cDNAposition:228 ProteinPosition:77 MutationType:plus_1_frameshift_variant AminoAcidChange:CYStoLEU inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 1

      KindredID: 86

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: two RCC tumors were detected in this patient

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77Lfs*55 (c.227_228insC)

      CaseProblemVariantFreeText: NM_000551.3:c.227_228insC automapped to NM_000551.3:c.228dupC

      LegacyVariant: p.76 FS (c.441insC)

      ClinVarID: N/A

      CAID: CA658795177 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_228insC

      gnomAD: N/A

      VariantEvidence: Tested the tumors for somatic mutations but did not detect any

      MutationType: plus_1_frameshift_variant

      CivicName: C77fs (c.228dup)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma InheritancePattern:AutosomalDominant NoFamilyInfo CAID:CA658795177 ClinVarID:N/A RefSeq:AF010238.1 Mutation:Germline CivicName:C77fs(c.228dup) cDNAposition:228 ProteinPosition:77 MutationType:plus_1_frameshift_variant AminoAcidChange:CYStoLEU inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712486/