1 Matching Annotations
  1. Last 7 days
  2. genomemedicine.biomedcentral.com genomemedicine.biomedcentral.com
    Lost in translation: returning germline genetic results in genome-scale cancer research
    1
    1. ClingenBaseline 26 Oct 2026
      Table 1 Characteristics and outcomes of cases returned

      PatientID: 026

      KindredID: 1

      Case: F, 25Y0M, Ethnicity Unknown

      DiseaseAssertion: pancreatic cancer

      FamilyInfo: No family information reported.

      CasePresentingHPOs: HP:0002894 (neoplasm of the pancreas)

      CaseHPOFreeText: Patient died of pancreatic cancer. No other phenotypic manifestations were detailed (table 1).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E52* (c.154G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182982, https://www.ncbi.nlm.nih.gov/clinvar/variation/182982/

      CAID: N/A

      gnomAD: 0.00001795, https://gnomad.broadinstitute.org/variant/3-10183685-G-T

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E52* (c.154G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant MutationType:stop_gained Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:neoplasmofthepancreas DiseaseEntity:pancreaticcancer CivicName:E52*(c.154G>T) cDNAPosition:154 ProteinPosition:52 AminoAcidChange:GLUtoTER NoFamilyInfo ClinVarID:Yes ClinVarID:182982 inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    genomemedicine.biomedcentral.com/articles/10.1186/s13073-017-0430-4