5 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID/ KindredID: 1

      Case: Age, Sex, Swedish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0002666 (renal cell carcinoma; pheochromocytoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma; hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S38P (c.112T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351747824 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.112T%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: S38P (c.112T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Swedish DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:112 MutationType:missense_variant;transition ProteinPosition:38 AminoAcidChange:SERtoPRO CivicName:S38P(c.112T>C) CAID:CA351747824 ClinVarID:N/A NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380110111
  3. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Telomere Shortening Is Associated with Genetic Anticipation in Chinese Von Hippel–Lindau Disease Families
    1
    1. ClingenBaseline 23 Oct 2026
      c.263G>A p.Trp88Stop

      PatientID: None (proband 11)

      KindredID: 11

      Case: M, 38Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother (last known age 36Y) had a CNS hemangioblastoma diagnosed at 36Y.

      CasePresentingHPOs: HP:0005584; HP:0001737 (renal cell carcinoma, pancreatic cysts)

      CaseHPOFreeText: RCC and multiple pancreatic cysts or tumors diagnosed at age 34 and 38Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 22357542

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts AgeOfPresentation:renalcellcarcinoma:34 AgeOfPresentation:pancreaticcysts:38 ClinVarID:182978 ClinVarID:Yes PreviouslyPublished ExperimentalAssay Familial AssumedRefSeq:NM_000551.3 Mutation:Germline MutationType:stop_gained AminoAcidChange:TRPtoTER ProteinPosition:88 CivicName:W88*(c.263G>A) cDNAposition:263 inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    cancerres.aacrjournals.org/content/74/14/3802
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease
    1
    1. ClingenBaseline 23 Oct 2026
      PMID: 24112165 Item in Clipboard

      PatientID: 2 (II:2)

      KindredID: 1

      Case: F, 40Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: large family history of VHL was tested - 3 members found. The patient's brother and her daughter had the same mutation - Her brother (patient 1) was diagnosed with spinal hemangioblastoma, and at 43Y he was diagnosed with ccRCC in his right kidney

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0000107; HP:0001737 (hemangioblastoma, clear cell renal cell carcinoma; renal cysts; pancreatic cysts)

      CaseHPOFreeText: had cerebellum hemangioblastoma at 38Y and a neoplasm of both kidneys at 40Y, as well as ccRCC, renal and pancreatic cysts.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 22398592

      SupplementalData: N/A

      Variant: p.L101R (c.302T>G)

      LegacyVariant: L101R (c.515T>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751004 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.302T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L101R (c.302T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:38 Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:L101R(c.302T>G) cDNAposition:302 ProteinPosition:101 AminoAcidChange:LEUtoARG MutationType:missense_variant;transversion CAID:CA351751004 ClinVarID:N/A Familial FamilyPedigree ExperimentalAssay Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/24112165/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    2
    1. ClingenBaseline 21 Oct 2026
      1138Y38Y38NNNNNc.340G>AExon 1p.Gly114SerMissense

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, 38Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: Also belonging to family 1, patients 2 and 3 had VHL diagnoses and phenotypes. Their relation is not clear.

      CasePresentingHPOs: HP:0002668, HP:0002666; HP:0030405 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient developed PPGL at 38Y of age, and a PNET at 38Y.

      CaseNotHPOs: HP:0010797; HP:0005584; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma, renal cell carcinoma, retinal capillary hemangioma, pancreatic cyst, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114S (c.340G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 583094 https://www.ncbi.nlm.nih.gov/clinvar/variation/583094/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G114S (c.340G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:38 AgeOfPresentation:pancreaticendocrinetumor:38 AgeOfPresentation:paraganglioma:38 cDNAposition:340 CivicName:G114S(c.340G>A) ProteinPosition:114 AminoAcidChange:GLYtoSER MutationType:missense_variant;transition ClinVarID:583094 ClinVarID:Yes Familial Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12762 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      1138Y38Y38NNNNNc.340G>AExon 1p.Gly114SerMissense

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, 38Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: Also belonging to family 1, patients 2 and 3 had VHL diagnoses and phenotypes. Their relation is not clear.

      CasePresentingHPOs: HP:0002668, HP:0002666; HP:0030405 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient developed PPGL at 38Y of age, and a PNET at 38Y.

      CaseNotHPOs: HP:0010797; HP:0005584; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma, renal cell carcinoma, retinal capillary hemangioma, pancreatic cyst, renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114S (c.340G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 583094 https://www.ncbi.nlm.nih.gov/clinvar/variation/583094/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G114S (c.340G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:38 AgeOfPresentation:pancreaticendocrinetumor:38 AgeOfPresentation:paraganglioma:38 cDNAposition:340 CivicName:G114S(c.340G>A) ProteinPosition:114 AminoAcidChange:GLYtoSER MutationType:missense_variant;transition ClinVarID:583094 ClinVarID:Yes Familial Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12762 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/