2 Matching Annotations
  1. Last 7 days
  2. academic.oup.com academic.oup.com
    In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease
    1
    1. ClingenBaseline 25 Oct 2026
      R167L 2 

      GroupID: None

      DiseaseAssertion: VHL

      GroupSize:2

      GroupNumberMales:N/A

      GroupNumberFemales:N/A

      GroupEthnicity: N/A

      GroupAgeRange: ≥12

      GroupInfo: The two patients were grouped by mutation.

      GroupPresentingHPOs: HP:0001732 (abnormality of the pancreas)

      GroupHPOFreeText: N/A

      GroupNotHPOs:N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167L(c.500G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526685 https://www.ncbi.nlm.nih.gov/clinvar/variation/526685/

      CAID:N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:R167L(c.500G>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL NoFamilyInfo cDNAposition:500 ProteinPosition:167 CivicName:R167L(c.500G>T) AminoAcidChange:ARGtoLEU ClinVarID:526685 ClinVarID:Yes DiseaseEntity:abnormalityofthepancreas ExperimentalAssay inferred_gene_hgnc:6716 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/103/4/1631/4774929
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    p.Arg82Leu von Hippel-Lindau (VHL) Gene Mutation among Three Members of a Family with Familial Bilateral Pheochromocytoma in India: Molecular Analysis and In Silico Characterization
    1
    1. ClingenBaseline 25 Oct 2026
      Patient 2 His eldest son presented to us at 10 years of age with severe hypertension. He was found to have bilateral pheochromocytoma. He underwent bilateral adrenalectomy in 1998. Subsequently he has remained asymptomatic.

      PatientID: III-3

      KindredID: 1

      Case: M, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family in India but Ethnicity not explicitly confirmed. Father and sister with the same mutation. Sister presented at age 17 with palpitation, blurred vision, blurring vision, bilateral papilledema and bilateral pheochromocytoma. Father presented at age 14 with hypertension and a right adrenal pheochromocytoma. He had severe headache, recurrent seizures, abnormal heart sounds and recurring pheochromocytoma in the left hypochondrium at age 22. Mother and uncle were negative for the mutation.

      CasePresentingHPOs: HP:0002666; HP:0002315 (Pheochromocytoma, Hypertension)

      CaseHPOFreeText: Presented at 10 years of age with severe hypertension. He was found to have bilateral pheochromocytoma. Asymptomatic at age 25.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.R82L (c.245G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 526675, https://www.ncbi.nlm.nih.gov/clinvar/variation/526675/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Authors carried out analysis of VHL variant p.Arg82Leu with six different in silico tools namely SIFT, I-Mutant3, PhD-SNP, MutPred, PolyPhen2 and SNPs&GO in order to determine the pathogenic potential of the variant.

      MutationType: missense_variant;transversion

      CivicName: R82L (c.245G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:headache AgeOfPresentation:pheochromocytoma:10 AgeOfPresentation:headache:10 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:245 ProteinPosition:82 AminoAcidChange:ARGtoLEU ClinVarID:526675 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:R82L(c.245G>T) Familial SupplementalData inferred_gene_hgnc:7583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3633967/