3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.proxy1.lib.uwo.ca onlinelibrary-wiley-com.proxy1.lib.uwo.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 02 Nov 2026
      8 I 15 35 6 CNS hb (15 years) 2 retinal hb (15 years) M c.319C > T and c.353 T > C (p.Arg107Cys) and (p.Leu118Pro)

      PatientID: I

      KindredID: 8

      Case: Sex Unknown, 35Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0010797 (Retinal capillary hemangioma, Hemangioblastoma)

      CaseHPOFreeText: Diagnosed with VHL at age 15Y. Presented with 6 CNS hemangioblastomas (15Y) and 2 retinal hemangioblastomas (15Y). Age at the end of study: 15Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R107C (c.319C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751195, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.319C%3ET

      gnomAD: 0.000004522, https://gnomad.broadinstitute.org/variant/3-10183850-C-T?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R107C (c.319C>T)

      MultipleGeneVariants: Germline, VHL, c.353T>C (p.L118P)

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:15 AgeOfPresentation:hemangioblastoma:15 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:319 ProteinPosition:107 AminoAcidChange:ARGtoCYS ClinVarID:N/A CAID:CA351751195 MutationType:missense_variant;transition CivicName:R107C(c.319C>T) MultipleVHLVariants NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.proxy1.lib.uwo.ca/doi/10.1002/ajmg.a.38324
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion
    1
    1. ClingenBaseline 01 Nov 2026
      Loss of heterozygosity of the second VHL allele can be consistently demonstrated in tumor tissue from these patients, suggesting that allelic deletion is a very early or even initiating event for tumorigenesis.

      PatientID: 3

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: None

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R69C (c.205C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1059402 https://www.ncbi.nlm.nih.gov/clinvar/variation/1059402/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: germline deletion on chromosome 3 (>35kb, <90kb) resulting in complete loss of VHL gene. Renal cell carcinoma sample from this patient shows a missense somatic mutation R69C(c.205C>T) in the second copy of VHL gene.

      MutationType: missense_variant; transition

      CivicName: Deletion AND R69C (c.205C>T)

      MultipleGeneVariants: Germline, VHL, Gene deletion

      DiseaseEntity:renalcellcarcinoma Mutation:Somatic MutationType:missense_variant;transition ClinVarID:1059402 ClinVarID:Yes ProteinPosition:69 AminoAcidChange:ARGtoCYS cDNAposition:205 NoFamilyInfo AssumedRefSeq:NM_000551.3 MultipleVHLVariants CivicName:DeletionANDR69C(c.205C>T) CivicName:R69C(c.205C>T) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/11850836/
  4. Oct 2026
  5. erc.bioscientifica.com erc.bioscientifica.com
    Calculating optimal surveillance for detection of von Hippel–Lindau-related manifestations
    1
    1. ClingenBaseline 27 Oct 2026
      235 (CAG-TAG)1 (1)163HBr, HBc, HBsc, RCC, Cr

      GroupID: None

      Case: Sex Unknown, 63Y0M, Dutch

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711, HP:0006880, HP:0009713, HP:0005584, HP:0000107 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was published later in PMID 31087189

      SupplementalData: N/A

      Variant: p.R79C (c.235C>T)

      LegacyVariant: c.235 (CAG-TAG)

      CaseProblemVariantFreeText: written in the publication as c.235 (CAG-TAG), deduced to c.235C>T: p.Arg79Cys updated nomenclature

      ClinVarID: 161400 https://www.ncbi.nlm.nih.gov/clinvar/variation/161400/

      CAID: N/A

      gnomAD: 0.00002168, https://gnomad.broadinstitute.org/variant/3-10183766-C-T

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R79C (c.235C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Dutch DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst ClinVarID:161400 ClinVarID:Yes NoFamilyInfo ProteinPosition:79 AminoAcidChange:ARGtoCYS cDNAposition:235 CivicName:R79C(c.235C>T) MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/21/1/63.xml