4 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: III-40

      KindredID: 1

      Case: F, Age unknown (deceased), Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Large multigenerational family with a history of both VHL and spinocerebellar ataxia type 2 (SCA2). Screening for clinical and genetic diagnostics were gathered as well as thorough information on non-living members. Her dad and grandmother appeared to have the VHL mutation. See family pedigree (Fig. 1).

      CasePresentingHPOs: None

      CaseHPOFreeText: VHL found by genetic testing not clinical findings.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10 (c.477delA)

      LegacyVariant: c.688delA

      CaseProblemVariantFreeText: c.477del, p.Glu160Serfs10 should be used. Details: 477del same as 475delA bc that codon is AAA so doesn't matter which A gets deleted: there is an A at 475 476 477 so for HGVS we say that 477 (the latter) is deleted since that follows HGVS nomenclature. Thus use c.477del: p.Glu160Serfs10

      ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:E160fs(c.477del) cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER MutationType:minus_1_frameshift_variant ClinVarID:182959 ClinVarID:Yes Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: III-40

      KindredID: 1

      Case: F, Age unknown (deceased), Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: Large multigenerational family with a history of both VHL and spinocerebellar ataxia type 2 (SCA2). Screening for clinical and genetic diagnostics were gathered as well as thorough information on non-living members. Her dad and grandmother appeared to have the VHL mutation. See family pedigree (Fig. 1).

      CasePresentingHPOs: None

      CaseHPOFreeText: VHL found by genetic testing not clinical findings.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10 (c.477delA)

      LegacyVariant: c.688delA

      CaseProblemVariantFreeText: c.477del, p.Glu160Serfs10 should be used. Details: 477del same as 475delA bc that codon is AAA so doesn't matter which A gets deleted: there is an A at 475 476 477 so for HGVS we say that 477 (the latter) is deleted since that follows HGVS nomenclature. Thus use c.477del: p.Glu160Serfs10

      ClinVarID: 182959 https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:AF010238.1 CivicName:E160fs(c.477del) cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER MutationType:minus_1_frameshift_variant ClinVarID:182959 ClinVarID:Yes Familial FamilyPedigree ExperimentalAssay inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1735181/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
    2
    1. ClingenBaseline 21 Oct 2026

      GroupID: 16

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10 (c.477del)

      LegacyVariant: c.688delA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182959, https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as c.688delA which was mapped to c.477del.

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER ClinVarID:182959 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:E160fs(c.477del) Familial FamilyCohort inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      GroupID: 16

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: VHL family found to have a germline rearrangement of the VHL gene. The number of family members included in this study is not specified.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Patients within this family were found to have a clinical diagnosis of VHL disease, however, the presenting phenotypes were not specified.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E160Sfs*10 (c.477del)

      LegacyVariant: c.688delA

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182959, https://www.ncbi.nlm.nih.gov/clinvar/variation/182959/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as c.688delA which was mapped to c.477del.

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: E160fs (c.477del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:477 ProteinPosition:160 AminoAcidChange:GLUtoSER ClinVarID:182959 ClinVarID:Yes MutationType:deletion MutationType:minus_1_frameshift_variant CivicName:E160fs(c.477del) Familial FamilyCohort inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/9829911/