1,045 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    43
    1. 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.792_794del p.(Leu265del)

      CGType:Variant Variant:42 CAID:CA645588451
    2. 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.393_395del p.(Asn131del)

      CGType:Variant Variant:17 ClinVarID:246343 CAID:CA10584593
    3. 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.323_325del p.(Gly108_Phe109delinsVal)

      CGType:Variant Variant:12 CAID:CA1139768485
    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.1054G>T p.(Asp352Tyr)

      CGType:Variant Variant:7 ClinVarID:481148 CAID:CA397832246
    5. 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.1043T>C p.(Leu348Ser)

      CGType:Variant Variant:6 CAID:CA397832401
    6. 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.847C>T p.(Arg283Cys)

      CGType:Variant Variant:48 ClinVarID:127824 CAID:CA000457
    7. 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.833C>G p.(Pro278Arg)

      CGType:Variant Variant:45 ClinVarID:376644 CAID:CA16603061
    8. 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.329G>A p.(Arg110His)

      CGType:Variant Variant:15 ClinVarID:127808 CAID:CA000123
    9. 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.472C>T p.(Arg158Cys)

      CGType:Variant Variant:20 ClinVarID:127812 CAID:CA000225
    10. 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.402T>G p.(Phe134Leu)

      CGType:Variant Variant:18 CAID:CA397842793
    11. 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
    12. 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.314G>A p.(Gly105Asp)

      CGType:Variant Variant:10 ClinVarID:141114 CAID:CA000102
    13. 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.215C>A p.(Pro72His)

      CGType:Variant Variant:8 ClinVarID:185120 CAID:CA000071
    14. 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.704A>G p.(Asn235Ser)

      CGType:Variant Variant:35 ClinVarID:127821 CAID:CA000343
    15. 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.770del p.(Leu257Argfs*88)

      CGType:Variant Variant:41 CAID:CA1139768484
    16. 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.375G>A p.?

      CGType:Variant Variant:16 ClinVarID:177825 CAID:CA000144
    17. 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.542G>A p.(Arg181His)

      CGType:Variant Variant:25 ClinVarID:142320 CAID:CA000259
    18. 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.1010G>A p.(Arg337His)

      CGType:Variant Variant:5 ClinVarID:12379 CAID:CA000013
    19. 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.910A>G p.(Thr304Ala)

      CGType:Variant Variant:51 ClinVarID:142702 CAID:CA000493
    20. 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.904G>A p.(Gly302Arg)

      CGType:Variant Variant:50 CAID:CA397836336
    21. 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.455del p.(Pro152Argfs*18)

      CGType:Variant Variant:19 ClinVarID:634779 CAID:CA497925664
    22. 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.869G>A p.(Arg290His)

      CGType:Variant Variant:49 ClinVarID:127825 CAID:CA000468
    23. 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.845G>C p.(Arg282Pro)

      CGType:Variant Variant:47 ClinVarID:376659 CAID:CA16603074
    24. 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.685T>C p.(Cys229Arg)

      CGType:Variant Variant:33 ClinVarID:420137 CAID:CA16620623
    25. 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.646G>A p.(Val216Met)

      CGType:Variant Variant:31 ClinVarID:182965 CAID:CA000308
    26. 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.578A>C p.(His193Pro)

      CGType:Variant Variant:28 ClinVarID:376612 CAID:CA16603033
    27. 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.577C>G p.(His193Asp)

      CGType:Variant Variant:27 ClinVarID:376613 CAID:CA16603034
    28. 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.523C>G p.(Arg175Gly)

      CGType:Variant Variant:22 ClinVarID:376649 CAID:CA16603066
    29. 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.323G>A p.(Gly108Asp)

      CGType:Variant Variant:14 CAID:CA397844631
    30. 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.31G>C p.(Glu11Gln)

      CGType:Variant Variant:11 ClinVarID:41723 CAID:CA000106
    31. 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.820del p.(Val274Phefs*71)

      CGType:Variant Variant:44 CAID:CA497716198
    32. 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.690del p.(Thr231Profs*16)

      CGType:Variant Variant:34 CAID:CA645588668
    33. 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.673-2A>G p.?

      CGType:Variant Variant:32 ClinVarID:458555 CAID:CA397839547
    34. 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.632_641del p.(Thr211Ilefs*33)

      CGType:Variant Variant:29 CAID:CA1139768487
    35. 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.491_494del p.(Lys164Serfs*5)

      CGType:Variant Variant:21 CAID:CA645588993
    36. 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.742C>T p.(Arg248Trp)

      CGType:Variant Variant:38 ClinVarID:12347 CAID:CA000382
    37. 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.323_329dup p.(Leu111Phefs*40)

      CGType:Variant Variant:13 ClinVarID:428860 CAID:CA645369686
    38. 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.216dup p.(Val73Argfs*76)

      CGType:Variant Variant:9 ClinVarID:182957 CAID:CA000073
    39. 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.818G>A p.(Arg273His)

      CGType:Variant Variant:43 ClinVarID:12366 CAID:CA000434
    40. 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.743G>A p.(Arg248Gln)

      CGType:Variant Variant:39 ClinVarID:12356 CAID:CA000387
    41. 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.524G>A p.(Arg175His)

      CGType:Variant Variant:23 ClinVarID:12374 CAID:CA000251
    42. 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
    43. 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: NM000546.5:c.(?-202)(*1207?)del p.?

      Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.

      CGType:Variant Variant:2
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059
  3. Jan 2019
  4. journals.plos.org journals.plos.org
    A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
    1
    1. shannon_mcnulty 23 Jan 2019
      The 313-bp product suggested the existence of a second alternative acceptor site (see below). Overall, in subject II:4, the amount of transcripts originating from the c. -22-2A>C allele was markedly inferior to that of transcripts from the c.35delG allele

      Alternative acceptor splice site identifiedby RT-qPCR

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    journals.plos.org/plosone/article
  5. Local file Local file
    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
    1
    1. shannon_mcnulty 22 Jan 2019
      Upon specifying the ACMG/AMP rules,conferencecallsandemailcorrespondencewereusedforthevariantpilotusingasetof51variantsfromninecommonHLgenesthatrepre-sentthevariedinheritancepatterns,evidencetypes,andphenotypicspectrumseenacrossHLcohorts(seeVariantPilotmethodsbelow).ThefinalsetofspecifiedrulesisshowninTable1.

      Variant selection for pilot

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