3 Matching Annotations
  1. Last 7 days
  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 26 Oct 2026
      171Yes101015b––Partial deletion–Rearrangement–

      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 c.183C>G 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: P61= (183C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 135951 https://www.ncbi.nlm.nih.gov/clinvar/variation/135951/

      CAID: N/A

      gnomAD: 0.0009632 https://gnomad.broadinstitute.org/variant/3-10183714-C-G

      VariantEvidence: N/A

      MutationType: synonymous_variant

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

      MultipleGeneVariants: Germline, VHL, Partial Deletion

      Familial Ethnicity:AmericanAdmixed/Latino InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:VHL ClinVarID:135951 AminoAcidChange:PROtoPRO MutationType:synonymous_variant CivicName:P61=(c.183C>G) cDNAposition:183 ProteinPosition:61 MultipleVHLVariants Mutation:Germline ClinVarID:Yes FamilyCohort inferred_gene_hgnc:17084 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/