4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 03 Nov 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 85CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 85CA. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without pheochromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL family with RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77Lfs*55 (c.228_229insC)

      LegacyVariant: FS (c.441insC)

      CaseProblemVariantFreeText: NM_000551.3:c.228_229insC automaps to c.228dupC

      ClinVarID: N/A

      CAID: CA658795177 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.228dupC

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: C77fs (c.228dupC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:228 CivicName:C77fs(c.228dup) ProteinPosition:77 MutationType:plus_1_frameshift_variant MutationType:duplication AminoAcidChange:CYStoLEU CAID:CA658795177 ClinVarID:N/A Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  3. Oct 2026
  4. aacrjournals.org aacrjournals.org
    Genetic and Epigenetic Analysis of von Hippel-Lindau (VHL) Gene Alterations and Relationship with Clinical Variables in Sporadic Renal Cancer
    1
    1. ClingenBaseline 24 Oct 2026
      Poorer survival has been associated with loss of function events (frameshift or nonsense mutations) compared with wild-type, missense mutations, and mutations of unknown biological consequence (25, 32) although numbers of cases in the LOF group were very small. We found no prognostic effect of VHL mutation but a trend (although not quite statistically significant) was seen for increased frequency of microvascular invasion in tumors where the presumed deletion would occur essentially from the elongin binding region onwards, possibly indicating a role for either HIF-regulated factors or other VHL substrates in this aspect of tumorigenesis. The largest previous study also found no relationship between clinicopathologic factors and VHL mutation/LOH in cRCC (26, 35). In marked contrast, however, is that 0 of 11 cRCC cases with methylation had an intragenic mutation whereas we found 14 of 19 methylated cases to have a confirmed mutation, although their mutation and methylation frequencies overall were much lower (51% and 5.4%, respectively). However, a significantly better cancer-free and overall survival was seen in patients with stage I to III cancer with VHL alteration (mutation or methylation) but wasn't seen in stage IV disease (35). Our data fails to confirm this although when stage IV patients were included a similar trend was seen. Differences between studies might reflect samples sizes, length of follow-up, and postoperative treatment.
      CAID:CA658795177 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    aacrjournals.org/cancerres/article/66/4/2000/526636/Genetic-and-Epigenetic-Analysis-of-von-Hippel
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 23 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 71CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 71CA. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C77Lfs*55 (c.228_229insC)

      LegacyVariant: FS (c.441insC)

      CaseProblemVariantFreeText: NM_000551.3:c.228_229insC automaps to c.228dupC

      ClinVarID: N/A

      CAID: CA658795177 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.228dupC

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: C77fs (c.228dupC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma cDNAposition:228 CivicName:C77fs(c.228dup) ProteinPosition:77 MutationType:duplication MutationType:plus_1_frameshift_variant CAID:CA658795177 ClinVarID:N/A AminoAcidChange:CYStoLEU Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    1
    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
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712486/