4 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations
    1
    1. ClingenBaseline 04 Nov 2026
      T152I missense mutation

      PatientID: None (sister)

      KindredID: 2

      Case: F, Age unknown, Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Her sister and mother were found to carry the same mutation. Her mother was asymptomatic too (aged 48Y), while her sister (aged 25Y) was operated on for a carotid body tumour.

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: An extensive clinical/physical examination was conducted: laboratory tests (urinary metanephrine and normetanephrine, plasma chromogranin A), an ophthalmoscopic examination and radiological exams (NMR of the brain, CT scan of the thorax and the abdomen) - all tests were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T152I (c.455C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351754382 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.455C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: T152I (c.455C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:T152I(c.455C>T) cDNAposition:455 ProteinPosition:152 AminoAcidChange:THRtoILE MutationType:missense_variant;transition CAID:CA351754382 Familial FamilyPedigree ExperimentalAssay ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2265.2007.03131.x
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations
    1
    1. ClingenBaseline 28 Oct 2026
      T152I missense mutation

      PatientID: None (mother)

      KindredID: 2

      Case: F, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Her 2 daughters were found to carry the same mutation. One daughter was asymptomatic too, while the other (aged 25Y) was operated on for a carotid body tumour.

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: An extensive clinical/physical examination was conducted: laboratory tests (urinary metanephrine and normetanephrine, plasma chromogranin A), an ophthalmoscopic examination and radiological exams (NMR of the brain, CT scan of the thorax and the abdomen) - all tests were normal.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T152I (c.455C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351754382 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.455C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: T152I (c.455C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:T152I(c.455C>T) cDNAposition:455 ProteinPosition:152 CAID:CA351754382 ClinVarID:N/A AminoAcidChange:THRtoILE MutationType:missense_variant;transition Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2265.2007.03131.x
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2
    1
    1. ClingenBaseline 22 Oct 2026
      24FVHLVHL p.Tyr152IleNRNRCarotid bodyNegativeNoNo

      PatientID: 24

      KindredID: 24

      Case: F, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Negative family history.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: a carotid body (paraganglioma) was reported with no other details.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T152I (c.455C>T)

      CaseProblemVariantFreeText: Variant is written in paper under p.Tyr152Ile. This is incorrect however is paired to a paper where this variant it described (PMID: 18031321) referencing Thr152Ile, so this was deduced.

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351754382 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.455C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName:T152I (c.455C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 NonFamilial DiseaseEntity:paraganglioma CAID:CA351754382 ClinVarID:N/A cDNAposition:455 CivicName:T152I(c.455C>T) ProteinPosition:152 AminoAcidChange:THRtoILE MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2690424/
  6. erc.bioscientifica.com erc.bioscientifica.com
    Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients
    1
    1. ClingenBaseline 22 Oct 2026
      VHL3c.455C>Tp.Thr152Ile1LCBc

      PatientID: N/A

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: paraganglioma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: Paraganglioma of the head and neck region (HNPGL): Left carotid body; nonsecreting paraganglioma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T152I (c.455C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351754382 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.455C%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: T152I (c.455C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:T152I(c.455C>T) cDNAposition:455 AminoAcidChange:THRtoILE MutationType:missense_variant;transition ProteinPosition:152 CAID:CA351754382 ClinVarID:N/A NoFamilyInfo PreviousTesting:MAX/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/19/2/149.xml