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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease
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    1. ClingenBaseline 13 Nov 2026
      two cases

      PatientID: None

      KindredID: 2

      Case: M, 53Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: One of the patient’s 3 children, a 25Y female, was found to carry the mutation but was asymptomatic.

      CasePresentingHPOs: HP:0006770; HP:0000107; HP:0001737 (Clear cell renal cell carcinoma, renal cysts, pancreatic cysts)

      CaseHPOFreeText: The patient presented with ccRCC, a renal cyst and a pancreatic nodule. The patient was asymptomatic except for mild hearing loss. The patient is deceased.

      CaseNotHPOs: HP:0010797; HP:0002666 (Hemangioblastoma, pheochromocytoma)

      CaseNotHPOFreeText: There was no evidence of hemangioblastomas of the brain or spine on MRI. Additionally, there was also no evidence of PCC on biochemical analysis, normal abdominal imaging results were present, and no retinal angiomas were found.

      CasePreviousTesting: SDHB, SDHC, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.-61_-51dup11)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: The mutation was a duplication in the VHL 5’ UTR involving the promoter.

      ClinVarID: 517152, http://www.ncbi.nlm.nih.gov/clinvar/variation/517152

      gnomAD: 0.0002825, https://gnomad.broadinstitute.org/variant/3-10141782-C-CTCCGCCCCGCG?dataset=gnomad_r3

      VariantEvidence: N/A

      MutationType: 5_prime_UTR_variant

      CivicName: c.-61_-51dup11

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcysts DiseaseEntity:pancreaticcysts AgeOfPresentation:clearcellrenalcellcarcinoma:53 AgeOfPresentation:renalcysts:53 AgeOfPresentation:pancreaticcysts:53 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:-61_-51 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:517152 MutationType:5_prime_UTR_variant CivicName:c.-61_-51dup11 PreviousTesting:SDHB,SDHC,SDHD Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/30006056/