4 Matching Annotations
  1. Last 7 days
  2. 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 14 Nov 2026
      9449Y49N—NYYYNc.500G>AExon 3p.Arg167GlnMissense

      PatientID: 9

      KindredID: 4

      Case: M, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Four other members of his family had this VHL mutation (Patients 6, 7, 8, 10).

      CasePresentingHPOs: HP:0002668, HP:0002666, HP:0000107, HP:0001737, HP:0010797(Paraganglioma, pheochromocytoma, renal cyst, pancreatic cysts, hemangioblastoma)

      CaseHPOFreeText:The patient was diagnosed with paraganglioma and pheochromocytoma at age 49.

      CaseNotHPOs: HP:0009711, HP:0005584, HP:0030405 (retinal capillary hemangioma, renal cell carcinoma, pancreatic endocrine tumor)

      CaseNotHPOFreeText: Although patient 4/9 is reported in Table 4 to have a pancreatic endocrine tumour this is believed to be a typo and actually be information on patient 4/10.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Paraganglioma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma AgeofPresentation:Paraganglioma:49 AgeOfPresentation:pheochromocytoma:49 Mutation:Germline MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN Familial ClinVarID:2216 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 10 Nov 2026
      5330Y33Y49YNYYYc.499C>TExon 3p.Arg167TrpMissense

      PatientID: 5

      KindredID: 3

      Case: Sex Unknown, 49Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

      CasePresentingHPOs: HP:0002668, HP:0002666; HP:0030405; HP:0005584; HP:0010797; HP:0001737; HP:0009711 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor, renal cell carcinoma, hemangioblastoma, pancreatic cyst, retinal capillary hemangioma)

      CaseHPOFreeText: The patient developed PPGL at 33Y of age, and a PNET at 49Y. They were also recorded with all of the above manifestations

      CaseNotHPOs: HP:0000107 (renal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:33 AgeOfPresentation:pheochromocytoma:33 DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:49 DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:2218 ClinVarID:Yes ProteinPosition:167 CivicName:R167W(c.499C>T) cDNAposition:499 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition NoFamilyInfo Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene
    1
    1. ClingenBaseline 27 Oct 2026
      Case reportThe female patient, aged 49, reported pains in her second and third finger of the right hand that she had had for 2 years. Initial diagnosis revealed isthmus carpalis and the patient was operated on without much success—no improvement was noticed.A year later, intensifying root pains of Root C5 and C6 on the right side were the reason for performing an MRI scan of the cervical spine. The findings from the study showed an intramedullary lesion of 1.5 cm in diameter, localized at the height of C5–C6 with accompanying syrinx stretching from C3 to C7. The patient was consulted neurosurgically several times, but refused to submit to a surgical treatment. Gradually, the pains extended to the entire forearm of the upper right limb, and numbness appeared of both lower limbs. She met the clinical diagnostic criteria for VHL disease [11]. Sequencing of the VHL gene revealed the presence of the 393C>A (N131K) missense mutation (Fig. 1) [12]. VHL disease was also diagnosed in her relatives (shown in Fig. 2).

      PatientID: III:2 (case)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: VHL disease was diagnosed in her relatives - although no genetic testing was directly performed on them prior to death. 2/3 of her siblings and her father were affected. Her father had retinal hemangioblastoma at 30Y, CNS hemangioblastoma at 40Y and died at 41Y. Her older brother had kidney cancer and died at 48Y, and her sister had retinal hemangioblastoma at 13Y and CNS hemangioblastoma at 29Y. The case’s daughter tested negative and their other living sister.

      CasePresentingHPOs: HP:0009711; HP:0000107; HP:0009713; HP:0002668 (retinal capillary hemangioblastoma; renal cysts; spine hemangioblastoma; paraganglioma)

      CaseHPOFreeText: patient at retinal hemangioblastoma at 22Y. At 47Y she reported pains in her second and third finger of the right hand. She developed large carotid body paraganglioma at the common carotid artery bifurcation, (49Y) coexisting with a hemangioblastoma situated intramedullary in region C5/C6 (the right-sided dorsal part of the spinal cord) at 47Y). 1 year after the hemangioblastoma resection, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. Motor issues and Babinski syndrome were also observed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N131K (c.393C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 420074 https://www.ncbi.nlm.nih.gov/clinvar/variation/420074/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N131K (c.393C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:paraganglioma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:retinalcapillaryhemangioma:22 AgeOfPresentation:paraganglioma:49 AgeOfPresentation:spinalhemangioblastoma:47 ClinVarID:420074 ClinVarID:Yes cDNAposition:393 ProteinPosition:131 AminoAcidChange:ASNtoLYS MutationType:missense_variant;transversion CivicName:N131K(c.393C>A) Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3092932/
  5. www-thieme-connect-de.myaccess.library.utoronto.ca www-thieme-connect-de.myaccess.library.utoronto.ca
    Prevalence and Spectrum of SDHx Mutations in Pheochromocytoma and Paraganglioma in Patients from Belgium: An Update
    1
    1. ClingenBaseline 25 Oct 2026
      The second, H125Y – previously unreported – was associated with the presence of a right pneumogastric nerve PGL diagnosed at 49 years.

      PatientID: N/A

      KindredID: 2

      Case: Sex Unknown, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: Paraganglioma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002668 (Paraganglioma)

      CaseHPOFreeText: right pneumogastric nerve paraganglioma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: SDHD/SDHB/SDHC

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H125Y (c.373C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 411970 https://www.ncbi.nlm.nih.gov/clinvar/variation/411970/

      CAID: N/A

      gnomAD: 0.00001193 https://gnomad.broadinstitute.org/variant/3-10188230-C-T

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: H125Y (c.373C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:373 ProteinPosition:125 AminoAcidChange:HIStoTYR ClinVarID:411970 MutationType:missense_variant;transition CivicName:H125Y(c.373C>T) AgeOfPresentation:paraganglioma:49 ClinVarID:Yes PreviousTesting:SDHD/SDHB/SDHC NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    www-thieme-connect-de.myaccess.library.utoronto.ca/products/ejournals/html/10.1055/s-0032-1311610