3 Matching Annotations
  1. Last 7 days
  2. erc.bioscientifica.com erc.bioscientifica.com
    Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
    1
    1. ClingenBaseline 03 Nov 2026
      c.394 C>Tap.Q132X

      GroupID: 14A

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: None. The patient with the given mutation in this study was a VHL patient with pancreatic ICTs.

      CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

      CaseHPOFreeText: Patient has islet cell tumors (ICTs), or listed as pancreatic endocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor RefSeq:NM_000551.2 Mutation:Germline NoFamilyInfo ClinVarID:288749 ClinVarID:Yes ProteinPosition:132 cDNAposition:394 CivicName:Q132*(c.394C>T) AminoAcidChange:GLNtoTER MutationType:stop_gained inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/17/4/875.xml
  3. link-springer-com.proxy1.lib.uwo.ca link-springer-com.proxy1.lib.uwo.ca
    Laparoscopic Organ-Sparing Resection of Von Hippel-Lindau Disease-Associated Pancreatic Neuroendocrine Tumors
    1
    1. ClingenBaseline 02 Nov 2026
      A female patient observed reduced vision in the right eye at age 17 years. She was diagnosed with retinal angiomatosis of the right eye. Laser therapy and brachytherapy were performed. Vision of the right eye remained reduced to 15%. At age 24, a hemangioblastoma of the cervical spinal cord was resected. At age 27, she underwent craniotomy for a cerebellar hemangioblastoma. Genetic testing revealed the mutation VHL c.394 C > T, which predict a truncated VHL protein (Q132X). In 2007, a 20 mm diameter left renal tumor was detected but not resected owing to its small size, as internationally recommended [1].In 2009 at age 38, abdominal MRI and CT angiography showed, in the axial view, a solid, 3.6 × 3.3 cm tumor of the pancreatic tail (Fig. 2a). Early arterial phase imaging after contrast injection revealed that the tumor had significant hyperperfusion. In addition, multiple pancreatic cysts were noted.

      PatientID: 2

      KindredID: 2

      Case: F, 38Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo:All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.

      CasePresentingHPOs: HP:0009711, HP:0009713, HP:0006880, HP:0009726, HP:0030405, HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm, pancreatic endocrine tumour, pancreatic cysts)

      CaseHPOFreeText: Retinal angiomatosis at age 17, hemangioblastoma of the cervical spinal cord at age 24, cerebellar hemangioblastoma at age 27, left renal tumor at age 36. Pancreatic endocrine tumour and pancreatic cysts at age 38. She had a laparoscopy which found an 8-cm retrogastric cyst, 3.2-cm benign PNET, and a serous cystadenoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      MutationType:stop_gained InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:German DiseaseEntity:VHL NoFamilyInfo DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:17 DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:24 DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:27 DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:38 AgeofPresentation:pancreaticcysts:38 DiseaseEntity:pancreaticcysts DiseaseEntity:Renalneoplasm AgeOfPresentation:renalneoplasm:36 AssumedRefSeq:NM_000551.3 cDNAposition:394 ProteinPosition:132 AminoAcidChange:GLNto* ClinVarID:288749 ClinVarID:Yes CivicName:Q132*(c.394C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link-springer-com.proxy1.lib.uwo.ca/article/10.1007/s00268-010-0878-5
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An Advanced Well-differentiated Pancreatic Neuroendocrine Carcinoma (NET-G3) Associated with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 31 Oct 2026
      45-year old Japanese woman

      PatientID: None

      KindredID: 1

      Case: F, 45Y0M, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: No evidence of a family history of VHL.

      CasePresentingHPOs: HP:0001737; HP:0030405; HP:0006880; HP:0006748; HP:0009711; HP:0001732; HP:0002896 (Pancreatic cysts, Pancreatic endocrine tumor, Cerebellar hemangioblastoma, Adrenal pheochromocytoma, Retinal capillary hemangioma, Abnormality of the pancreas, Neoplasm of the liver)

      CaseHPOFreeText: The proband had a cerebellar hemangioblastoma resected at age 17, retinal hemangioblastoma surgery at age 26, and an adrenalectomy for pheochromocytoma at age 30. An abdominal CT revealed a 4cm abdominal mass and diffuse pancreatic cystic lesions, diagnosed as pancreatic neuroendocrine tumor.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText:

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749, (https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/)

      CAID: CA10606205 (http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA10606205)

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Mutation:Germline AminoAcidChange: GLNtoTER ProteinPosition:132 CAiD:CA10606205 MutationType:missense_variant;transition CivicName:Q132*(c.394C>T) DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:hemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:cerebellarhemangioblastoma:17 AgeOfPresentation:retinalcapillaryhemangioma:26 AgeOfPresentation:adrenalpheochromocytoma:30 cDNAposition:394 AssumedRefSeq:NM_000551.3 NonFamilial InheritancePattern:AutosomalDominant Ethnicity:Japanese ClinVarID: 288749 ClinVarID:Yes DiseaseEntity:neoplasmoftheliver inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6096011/