2 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
    1
    1. ClingenBaseline 31 Oct 2026
      428Y8Y14NNNNNc.340G>AExon 1p.Gly114SerMissense

      PatientID: 4

      KindredID: 2

      Case: F, 14Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: None

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

      CaseHPOFreeText: The patient developed bilateral pheo (as large as L = 6.0cm and R = 5.5cm) at 8Y of age. These recurred after 24months. They later presented with multiple PNET (largest 1.5cm) at 14Y.

      CaseNotHPOs: HP:0002668; HP:0005584; HP:0001737; HP:0010797; HP:0009711; HP:0000107 (paraganglioma, renal cell carcinoma, pancreatic cyst, hemangioblastoma, retinal capillary hemangioma, 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 AgeOfPresentation:pheochromocytoma:8 DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:14 ProteinPosition:114 CivicName:G114S(c.340G>A) cDNAposition:340 AminoAcidChange:GLYtoSER MutationType:missense_variant;transition ClinVarID:583094 ClinVarID:Yes Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican NoFamilyInfo 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. link.springer.com link.springer.com
    Total pancreatectomy for multiple neuroendocrine tumors of the pancreas in a patient with von Hippel–Lindau disease
    1
    1. ClingenBaseline 23 Oct 2026
      A 33-year-old Japanese woman had suffered back pain for seven years. She was referred to our institute because multiple solid tumors in the pancreas had gradually increased in size, which was pointed out at 27 years of age. She had a medical history of treatment for a variety of VHLD-associated tumors, including a pancreatic NET surgically resected at 14 years of age, hemangiomas of the fourth ventricle and cervical spinal cord operated at 19 years of age, and a renal cell carcinoma of the right kidney treated by nephrectomy at 30 years of age.

      PatientID: None

      KindredID: 1

      Case: F, 33Y0M, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: Her father and elder brother were also diagnosed with VHLD, with her father having a medical history of two surgical resections for pancreatic NET and associated metastatic recurrence in the liver.

      CasePresentingHPOs: HP:0030405, HP:0009713, HP:0005584, HP:0010797 (Pancreatic endocrine tumor, Spinal hemangioblastoma, Renal cell carcinoma, hemangioblastoma)

      CaseHPOFreeText: She first developed multiple solid tumors of the pancreas at age 27 and they continued to grow until she was referred to the institute at age 33. She had a pancreatic endocrine tumour at age 14. At age 19, she had hemangiomas of the fourth ventricle and cervical spinal cord and a renal cell carcinoma of the right kidney treated by nephrectomy at 30 years of age.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 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: Immunohistochemical studies revealed that the tumor cells were positive for synaptophysin and chromogranin A.

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Japanese Familial DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:27 AgeOfPresentation:pancreaticendocrinetumor:14 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:19 DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:30 DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:30 MutationType:missense_variant;transition CivicName:R167Q(c.500G>A) cDNAposition:500 AminoAcidChange:ARGtoGLN ProteinPosition:167 ClinVarID:2216 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12328-009-0071-2