3 Matching Annotations
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    Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
    3
    1. ClingenBaseline 25 Oct 2026
      c.341-6C > T (intron 1)

      PatientID: None

      KindredID: 5

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      CaseHPOFreeText: Patient had an intracranial aneurysm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.341-6C>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 371898 https://www.ncbi.nlm.nih.gov/clinvar/variation/371898/

      CAID: N/A

      gnomAD: 0.00008132 https://gnomad.broadinstitute.org/variant/3-10188192-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (341-6C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 ClinVarID:371898 ClinVarID:Yes cDNAposition:341 NoFamilyInfo MutationType:splice_site_variant CivicName:SpliceSite(341-6C>T) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      c.463 + 43A > G (intron 2)

      GroupID/ KindredID: None

      DiseaseAssertion: dilatation of the cerebral artery

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 8 patients are listed with this SNP mutation; any relation is unknown.

      GroupPresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      GroupHPOFreeText: All members are stated to have intracranial aneurysms. Other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+43A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 1244574 https://www.ncbi.nlm.nih.gov/clinvar/variation/1244574/

      CAID: N/A

      gnomAD: 0.01186 https://gnomad.broadinstitute.org/variant/3-10188363-A-G

      VariantEvidence: This variant’s large allele frequency means this is likely non disease causing (not deleterious; polymorphism).

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Region (463+43A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 NoFamilyInfo cDNAposition:463 CivicName:SpliceRegion(463+43A>G) MutationType:splice_site_variant ExperimentalAssay ClinVarID:1244574 ClinVarID:Yes MutationType:intron_variant inferred_gene_hgnc:5136 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 22 Oct 2026
      c.463 + 8C > T (intron 2)

      PatientID: None

      KindredID: 6

      Case: Sex, Age, Ethnicity unknown

      DiseaseAssertion: dilatation of the cerebral artery

      FamilyInfo: None

      CasePresentingHPOs: HP:0004944 (dilatation of the cerebral artery)

      CaseHPOFreeText: Patient had an intracranial aneurysm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.463+8C>T

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 127830 https://www.ncbi.nlm.nih.gov/clinvar/variation/127830/

      CAID: N/A

      gnomAD: 0.0005055 https://gnomad.broadinstitute.org/variant/3-10188328-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Region (c.463+8C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:dilatationofthecerebralartery Mutation:Germline RefSeq:NM_000551.2 cDNAposition:463 ClinVarID:127830 ClinVarID:Yes MutationType:splice_site_variant NoFamilyInfo CivicName:SpliceRegion(c.463+8C>T) ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    sciencedirect.com/science/article/pii/S1052305713000220