9 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    5
    1. ClingenBaseline 04 Nov 2026
      c.99_100InsA*

      PatientID: None (IV)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age <18Y0M

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: asymptomatic upon pre- and first screening, + 1 HB by final 5 year follow up

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      CAID:CA2018007671 ClinVarID:N/A InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 CivicName:G34Rfs(c.99_100insA) cDNAposition:99 MutationType:plus_1_frameshift_variant Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 03 Nov 2026
      c.99_100InsA*

      PatientID: None (III)

      KindredID: 6

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: Total of 6 family members belonging to Family 6 (see Table 2; or follow KindredID 6)

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0001737; HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cyst, pancreatic cysts, renal cell carcinoma)

      CaseHPOFreeText: 1 HB, bilateral RA, pancreatic and kidney Cysts during first screening; with the addition of +2 RCC by final status

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 CivicName:G34Rfs(c.99_100insA) cDNAposition:99 AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 03 Nov 2026
      c.99_100InsA*

      PatientID: None (VI)

      KindredID: 6

      Case: Sex and Ethnicity unknown; Age <18Y0M

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Total of 6 family members belonging to Family 6 (see Table 2; or follow KindredID 6)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 CivicName:G34Rfs(c.99_100insA) cDNAposition:99 AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 01 Nov 2026
      7c.99_100InsA*>18NAsymptomaticECSame

      PatientID: None (I)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: assumed VHL

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: HP:0030424 (epididymal cyst)

      CaseHPOFreeText: Originally thought to be asymptomatic pre-testing; found epididymal cyst at first screening

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:epididymalcyst DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 CivicName:G34Rfs(c.99_100insA) cDNAposition:99 MutationType:plus_1_frameshift_variant AminoAcidChange:GLYtoARG CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    5. ClingenBaseline 30 Oct 2026
      c.99_100InsA*

      PatientID: None (V)

      KindredID: 6

      Case: Sex and Ethnicity unknown; Age <18Y0M

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Total of 6 family members belonging to Family 6 (see Table 2; or follow KindredID 6)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 cDNAposition:99 CivicName:G34Rfs(c.99_100insA) AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
    4
    1. ClingenBaseline 25 Oct 2026
      c.99_100InsA*

      PatientID: None (X)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age <18Y0M

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 AminoAcidChange:GLYtoARG CivicName:G34Rfs(c.99_100insA) cDNAposition:99 MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      c.99_100InsA*

      The genetic testing program for VHL disease included 17 families, ten of which had definite VHL disease and seven had possible VHL disease. 17 families (n=109 individuals) were tested for VHL mutations using peripheral blood. Mutation analysis was performed by direct sequencing of the VHL gene. Mutations were identified in 36 patients. Mutations-carriers were screened for VHL disease-related tumors and were offered follow-up annual examinations. Tumor status and phenotypes were documented at initial screening and at follow ups. 6 (3 adults and 3 children) members from family 6 were tested positive with c.99_100InsA mutation. 2 adult and 1 pediatric patients were affected at initial screening. Another adult patient was affected by VHL disease at follow up. The other 2 children were asymptomatic both at initial screening and at last follow up. 13 (7 adults and 6 children) members from family 7 were tested positive with c.99_100InsA mutation. 9 members were affected by clinical VHL disease in total by the final follow up. The other 4 patients (whom were all pediatric) were asymptomatic at last follow up. ACMG evidence codes: 'PP4' because the patients' family history are highly specific for a disease with single genetic etiology.

      ClinVarID:N/A CAID:CA2018007671 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 22 Oct 2026
      c.99_100InsA*

      PatientID: None (II)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age <18Y0M

      DiseaseAssertion: Asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 AminoAcidChange:GLYtoARG CivicName:G34Rfs(c.99_100insA) cDNAposition:99 MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026
      c.99_100InsA*

      PatientID: None (XIII)

      KindredID: 7

      Case: Sex and Ethnicity unknown; Age >18Y0M

      DiseaseAssertion: asymptomatic

      FamilyInfo: Total of 13 family members belonging to Family 7 (see Table 2; or follow KindredID 7)

      CasePresentingHPOs: None

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 16572651

      SupplementalData: N/A

      Variant: p.G34Rfs*98 (c.99_100insA)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2018007671 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2018007671

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: G34Rfs (c.99_100insA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:34 cDNAposition:99 CivicName:G34Rfs(c.99_100insA) AminoAcidChange:GLYtoARG MutationType:plus_1_frameshift_variant CAID:CA2018007671 ClinVarID:N/A Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2822817/