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    Trichloroethylene Exposure and Specific Somatic Mutations in Patients With Renal Cell Carcinoma
    1
    1. ClingenBaseline 13 Nov 2026
      473 delTAT 87  Deletion 

      PatientID: 1654

      KindredID: 1654

      Case: Sex Unknown, 59Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 44 patients with renal cell carcinoma who had known industrial exposure to trichloroethylene (TRI).

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: The patient had TRI exposure at age 25 and was diagnosed with renal cell carcinoma at age 59.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V87Gfs*71(c.260_263del)

      LegacyVariant: p.V87Gfs*71(c.473_476del)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID:CA2573320242 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320242

      gnomAD: N/A

      VariantEvidence: The patient had LOH.

      MutationType: minus_2_frameshift_variant

      CivicName: V87Gfs*71(c.260_263del)

      MultipleGeneVariants: Germline, VHL, c.241C>T (Pro81Ser)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:59 NoFamilyInfo cDNAposition:260 ProteinPosition:87 AminoAcidChange:VALtoGLY CAID:CA2573320242 ClinVarID:N/A AssumedRefSeq:AF010238.1 Mutation:Somatic MutationType:minus_2_frameshift_variant CivicName:V87Gfs*71(c.260_263del) MultipleVHLVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/jnci/article/91/10/854/2905708