3 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
    3
    1. ClingenBaseline 29 Oct 2026

      GroupID: None

      KindredID: 16

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: Four members of a South American family expressed this 462-95T>A mutation.

      GroupPresentingHPOs: HP:0010797, HP:0002666 (hemangioblastoma,pheochromocytoma)

      GroupHPOFreeText:Two family members had hemangioblastoma of the central nervous system. Three had pheochromocytoma.

      GroupNotHPOs: HP:0002894, HP:0009711, HP:0005584 (neoplasm of the pancreas, retinal capillary hemangioma, renal cell carcinoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-94T>A

      LegacyVariant: IVS2-95T>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1201249 https://www.ncbi.nlm.nih.gov/clinvar/variation/1201249/?oq=1201249&m=NM_000551.4(VHL):c.464-94T%3EA

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: intron_variant

      CivicName: R167Q(c.500G>A) and c.464-94T>A

      MultipleGeneVariants: Germline, VHL, c.500G>A (Arg167Glu)

      CivicName:R167Q(c.500G>A)andc.464-94T>A InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 MutationType:missense_variant;transition cDNAposition:464 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:1201249 ClinVarID:Yes MultipleVHLVariants Familial Ethnicity:AmericanAdmixed/Latino FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026
      91Yes3111––344 del A2Frameshift at aa 115hFrameshiftNovel

      GroupID: None

      KindredID:9

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed/Latino

      GroupAgeRange: N/A

      GroupInfo: Three members of a South American family expressed this c.344delA mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Pfs*44 (c.344delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:N/A

      CAID: CA70049370 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H115Pfs*44(c.344delA) and P61=(c.183C>G)

      MultipleGeneVariants: Germline, VHL,c.c.183C>G (p.Pro61Pro)

      ClinVarID:N/A InheritancePattern:AutosomalDominant Familial Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma cDNAposition:344 ProteinPosition:115 AminoAcidChange:HIStoPRO CAID:CA70049370 MultipleVHLVariants MutationType:minus_1_frameshift_variant Ethnicity:AmericanAdmixed/Latino FamilyCohort CivicName:H115Pfs*44(c.344delA)andP61=(c.183C>G) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 24 Oct 2026

      GroupID: None

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: 10 members of a South American family expressed this mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: All 10 family members had a central nervous system hemangioblastoma. One also had a retinal angioma. Five had renal carcinoma. One patient per family with renal tumour <3 cm under follow up detected by imaging.

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Partial Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: Deletion

      CivicName: Partial Deletion and P61=( c.183C>G)

      MultipleGeneVariants: Germline, VHL, c.183C>G (Pro61Pro)

      Familial Ethnicity:AmericanAdmixed/Latino InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:VHL ClinVarID:N/A AminoAcidChange:N/A ProteinPosition:61 cDNAposition:183 CivicName:Partial DeletionandP61=(c.183C>G) MultipleVHLVariants Mutation:Germline FamilyCohort MutationType:deletion UnregisteredVariant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/12624160/