5 Matching Annotations
  1. Last 7 days
  2. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    2
    1. ClingenBaseline 04 Nov 2026
      c.533T>G p.Leu178Arg

      PatientID: None (proband 10’s son)

      KindredID: 10

      Case: M, 30Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s father was found with hemangioblastoma diagnosed at 39Y, as well as retinal capillary hemangioma, renal cell carcinoma and pancreatic cysts diagnose at 57Y

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: patient had RCC diagnosed at 30Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178R (c.533T>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625261 https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178R (c.533T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:30 ClinVarID:625261 ClinVarID:Yes ProteinPosition:178 CivicName:L178R(c.533T>G) cDNAposition:533 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026
      c.533T>G p.Leu178Arg

      PatientID: None (proband 10)

      KindredID: 10

      Case: M, 57Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s son was found with the same mutation, as well as RCC diagnosed at 30Y

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584; HP:0001737 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma, pancreatic cysts)

      CaseHPOFreeText: patient had hemangioblastoma diagnosed at 39Y, as well as retinal capillary hemangioma, renal cell carcinoma and pancreatic cysts diagnose at 57Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178R (c.533T>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625261 https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178R (c.533T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:39 AgeOfPresentation:retinalcapillaryhemangioma:57 AgeOfPresentation:renalcellcarcinoma:57 AgeOfPresentation:pancreaticcysts:57 ClinVarID:625261 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 ExperimentalAssay CivicName:L178R(c.533T>G) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    2
    1. ClingenBaseline 01 Nov 2026

      PatientID: 233

      KindredID: 86

      Case: M, 30Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 229) had a sister (patient 230) who was genetically confirmed with the mutation, and presented with a CNS hemangioblastoma at age 40. The proband's brother 1 (patient 231) was also confirmed with the mutation and had a retinal angioma at 25, and renal cell carcinoma at 54. The proband's brother 2 passed away before they could be diagnosed/ confirmed with the mutation, but they had a CNS hemangioblastoma at 35. Finally, the proband's nephew (son of brother 2) was genetically confirmed with the mutation and presented with renal cell carcinoma at age 30.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: The proband's nephew (son of brother 2) (patient 233) had a renal cell carcinoma at age 30.

      CaseNotHPOs: HP:0002666; HP:0001737; HP:0001732; HP:0009711; HP:0010797 (Pheochromocytoma, Pancreatic cysts, Abnormality of the pancreas, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.L178R (c.533T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625261, https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L178R (c.533T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL ClinVarID:625261 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:L178R(c.533T>G) Familial SupplementalData DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:30 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026

      PatientID: 230

      KindredID: 86

      Case: F, 40Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 229) had a sister (patient 230) who was genetically confirmed with the mutation, and presented with a CNS hemangioblastoma at age 40. The proband's brother 1 (patient 231) was also confirmed with the mutation and had a retinal angioma at 25, and renal cell carcinoma at 54. The proband's brother 2 passed away before they could be diagnosed/ confirmed with the mutation, but they had a CNS hemangioblastoma at 35. Finally, the proband's nephew (son of brother 2) was genetically confirmed with the mutation and presented with renal cell carcinoma at age 30.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: The proband's sister (patient 230) had a CNS hemangioblastoma at age 40.

      CaseNotHPOs: HP:0002666; HP:0001737; HP:0001732; HP:0005584; HP:0009711 (Pheochromocytoma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.L178R (c.533T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625261, https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L178R (c.533T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:40 ClinVarID:625261 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:L178R(c.533T>G) Familial SupplementalData cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Family history of von Hippel–Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: N/A

      KindredID: 7

      Case: M, 58Y0M, Chinese

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Patient had family history of VHL disease. Patient’s nephew presented with renal cell carcinoma at 30, patient's sister/brother presented with a hemangioblastoma at age 39 and then retinal capillary hemangioma, renal cell carcinoma, and abnormality of the pancreas at age 57. Patient’s sister presented with a hemangioblastoma at age 40. All three of these family members were genetically tested and possessed the same mutation. Patient’s other brother presented with a hemangioblastoma at age 35 but died before diagnosis and genetic testing.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0009711, HP:0005584 (retinal capillary hemangioma, renal cell carcinoma)

      CaseHPOFreeText: Patient presented with retinal hemangioma at age 25 and renal cell carcinoma at age 54.

      CaseNotHPOs: HP:0002666, HP:0030393, HP:0010797, HP:0001732 (pheochromocytoma, endolymphatic sac tumor, hemangioblastoma, abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178R (c.533T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625261, https://www.ncbi.nlm.nih.gov/clinvar/variation/625261/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178R (c.533T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 Ethnicity:Chinese Familial DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:retinalcapillaryhemangioma:25 AgeOfPresentation:renalcellcarcinoma:54 CivicName:L178R(c.533T>G) cDNAPosition:533 ProteinPosition:178 AminoAcidChange:LEUtoARG ClinVarID:Yes ClinVarID:625261 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/22357542/