3 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
    2
    1. ClingenBaseline 04 Nov 2026
      709 G-->T transversion present in all affected subjects and in four presymptomatic children.

      PatientID: II:10

      KindredID: 1

      Case: F, Age Unknown (deceased), Jewish

      DiseaseAssertion: VHL

      FamilyInfo: This kindred of Jewish-Kurdish origin consisted of 3 generations of 25 members. 7 were clinically affected subjects with pheochromocytoma (5 of which had the confirmed mutation - I:1, II:2, II:4, II:7 and II:9, as the other 2, II:5 and II:10 were said to have passed due to complications of the disease - prior to any genetic testing), and 4 others were carriers, or pre-symptomatic (III:1, III:3, III:7 and III:12). Subject 11:7 developed a cerebellar hemangioblastoma 25 yr after his initial diagnosis of pheochromocytoma, leading to the clinical diagnosis of VHL in the kindred.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: patient had unilateral pheochromocytoma. She was said to have died of complications of the disease, and although genotype was not established prior, it is assumed that she carried the same VHL mutation

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 33471715

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T) [assumed]

      LegacyVariant: p.V166F (c.709G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      VariantEvidence: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Ethnicity:Jewish Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree ClinVarID:2224 ClinVarID:Yes ProteinPosition:166 cDNAposition:496 CivicName:V166F(c.496G>T) AminoAcidChange:VALtoPHE MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      709 G-->T transversion present in all affected subjects and in four presymptomatic children.

      PatientID: II:5

      KindredID: 1

      Case: M, Age Unknown (deceased), Jewish

      DiseaseAssertion: VHL

      FamilyInfo: This kindred of Jewish-Kurdish origin consisted of 3 generations of 25 members. 7 were clinically affected subjects with pheochromocytoma (5 of which had the confirmed mutation - I:1, II:2, II:4, II:7 and II:9, as the other 2, II:5 and II:10 were said to have passed due to complications of the disease - prior to any genetic testing), and 4 others were carriers, or pre-symptomatic (III:1, III:3, III:7 and III:12). Subject 11:7 developed a cerebellar hemangioblastoma 25 yr after his initial diagnosis of pheochromocytoma, leading to the clinical diagnosis of VHL in the kindred.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: patient had bilateral pheochromocytoma. He was said to have died of complications of the disease, and although genotype was not established prior, it is assumed that he carried the same VHL mutation

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 33471715

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T) [assumed]

      LegacyVariant: p.V166F (c.709G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      VariantEvidence: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Ethnicity:Jewish Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree ClinVarID:2224 ClinVarID:Yes cDNAposition:496 CivicName:V166F(c.496G>T) AminoAcidChange:VALtoPHE ProteinPosition:166 MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/81/1/147/2649376
  3. Oct 2026
  4. academic.oup.com academic.oup.com
    Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
    1
    1. ClingenBaseline 27 Oct 2026
      709 G-->T transversion present in all affected subjects and in four presymptomatic children.

      PatientID: II:7

      KindredID: 1

      Case: M, Age Unknown, Jewish

      DiseaseAssertion: VHL

      FamilyInfo: This kindred of Jewish-Kurdish origin consisted of 3 generations of 25 members. 7 were clinically affected subjects with pheochromocytoma (5 of which had the confirmed mutation - I:1, II:2, II:4, II:7 and II:9, as the other 2, II:5 and II:10 were said to have passed due to complications of the disease - prior to any genetic testing), and 4 others were carriers, or pre-symptomatic (III:1, III:3, III:7 and III:12). Subject 11:7 developed a cerebellar hemangioblastoma 25 yr after his initial diagnosis of pheochromocytoma, leading to the clinical diagnosis of VHL in the kindred.

      CasePresentingHPOs: HP:0002666; HP:0006880; HP:0030074 (pheochromocytoma, cerebellar hemangiolastoma, chemodectoma)

      CaseHPOFreeText: patient had cerebellar HB at 25Y, after his initial diagnosis with bilateral pheochromocytoma, and then also extra-adrenal chromafin tumors (carotid body chemodectoma).

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 33471715

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: p.V166F (c.709G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      VariantEvidence: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Jewish DiseaseEntity:chemodectoma DiseaseEntity:pheochromocytoma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:25 Mutation:Germline AssumedRefSeq:AF010238.1 Familial FamilyPedigree ClinVarID:2224 ClinVarID:Yes ProteinPosition:166 CivicName:V166F(c.496G>T) cDNAposition:496 MutationType:missense_variant;transversion AminoAcidChange:VALtoPHE inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

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    academic.oup.com/jcem/article/81/1/147/2649376