5 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    5
    1. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56, 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    2. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451
    3. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1, 6.0

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    4. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.723del p.(Cys242Alafs*5)

      CGType:Variant Variant:36 CAID:CA497717451
    5. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 52

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.

      CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059