2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel germline mutations in Swedish von Hippel-Lindau disease patients
    2
    1. ClingenBaseline 21 Oct 2026
      PMID: 21528239

      GroupID/ KindredID: A

      DiseaseAssertion: assumed VHL

      GroupSize: 8

      GroupNumberMales: 2

      GroupNumberFemales: 6

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: The kindred comprised of 21 individuals over 4 generations. The following members have a confirmed mutation: I:1 (F, deceased), II:2 (F, deceased), III:2 (F, deceased), III:4 (M), III:6 (F), IV:4 (F), IV:6 (M), IV:7 (F, is predicted to be affected). The 3 deceased members had died from VHL related tumors. Another 3 were suffering from VHL, another developed RCC an cHB, and 1 was a VHL carrier. All 8 members had this mutation

      GroupPresentingHPOs: HP:0005584; HP:0006880; HP:0009711; HP:0030421 (renal cell carcinoma; cerebellar hemangioblastoma; retinal capillary hemangioma; epidymidal tumor)

      GroupHPOFreeText: 5 members had RCC, 5 had multiple cerebellar hemangioblastomas, 2 had retinal capillary hemangioma and 1 had an epidymidal tumor.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: None of the eight VHL carriers of the first kindred had developed pheochromocytoma, and this kindred clearly presents VHL disease type 1

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7700111

      SupplementalData: N/A

      Variant: p.S183Cfs*19 (c.548delC)

      LegacyVariant: p.183 (c.761delC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658795184 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.548delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: S183fs (c.548delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:epididymalcyst DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:183 cDNAposition:548 CivicName:S183fs(c.548delC) MutationType:minus_1_frameshift_variant AminoAcidChange:SERtoCYS CAID:CA658795184 ClinVarID:N/A Familial FamilyCohort FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      PMID: 21528239

      GroupID/ KindredID: A

      DiseaseAssertion: assumed VHL

      GroupSize: 8

      GroupNumberMales: 2

      GroupNumberFemales: 6

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: The kindred comprised of 21 individuals over 4 generations. The following members have a confirmed mutation: I:1 (F, deceased), II:2 (F, deceased), III:2 (F, deceased), III:4 (M), III:6 (F), IV:4 (F), IV:6 (M), IV:7 (F, is predicted to be affected). The 3 deceased members had died from VHL related tumors. Another 3 were suffering from VHL, another developed RCC an cHB, and 1 was a VHL carrier. All 8 members had this mutation

      GroupPresentingHPOs: HP:0005584; HP:0006880; HP:0009711; HP:0030421 (renal cell carcinoma; cerebellar hemangioblastoma; retinal capillary hemangioma; epidymidal tumor)

      GroupHPOFreeText: 5 members had RCC, 5 had multiple cerebellar hemangioblastomas, 2 had retinal capillary hemangioma and 1 had an epidymidal tumor.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: None of the eight VHL carriers of the first kindred had developed pheochromocytoma, and this kindred clearly presents VHL disease type 1

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7700111

      SupplementalData: N/A

      Variant: p.S183Cfs*19 (c.548delC)

      LegacyVariant: p.183 (c.761delC)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658795184 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.548delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: S183fs (c.548delC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:epididymalcyst DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:183 cDNAposition:548 CivicName:S183fs(c.548delC) MutationType:minus_1_frameshift_variant AminoAcidChange:SERtoCYS CAID:CA658795184 ClinVarID:N/A Familial FamilyCohort FamilyPedigree ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21528239/