- Feb 2021
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jmg.bmj.com jmg.bmj.com
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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.?
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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.?
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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.
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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.
Tags
- Variant:10
- ClinVarID:127812
- CAID:CA397836336
- CAID:CA645588668
- CAID:CA000123
- Variant:41
- Variant:25
- Variant:13
- CAID:CA1139768485
- ClinVarID:127808
- Variant:51
- Variant:34
- Variant:7
- ClinVarID:142702
- CAID:CA645588993
- FuncAssay:4
- ClinVarID:246343
- CAID:CA000106
- Variant:50
- ClinVarID:182965
- CAID:CA397839547
- ClinVarID:185120
- Variant:16
- CGType:Variant
- ClinVarID:12379
- Variant:47
- ClinVarID:376659
- Variant:44
- Variant:11
- ClinVarID:428860
- CAID:CA397832246
- CAID:CA1139768484
- ClinVarID:376649
- CAID:CA000493
- Variant:6
- ClinVarID:127821
- CAID:CA000251
- Variant:15
- CAID:CA645369686
- ClinVarID:376612
- CAID:CA000434
- ClinVarID:177825
- ClinVarID:420137
- CGType:FunctionalAssayResult
- ClinVarID:481148
- ClinVarID:634779
- CAID:CA16603066
- CAID:CA16603034
- CAID:CA497716198
- CAID:CA000343
- ClinVarID:12356
- Variant:23
- ClinVarID:41723
- CAID:CA16603033
- CAID:CA000225
- ClinVarID:142320
- CAID:CA10584593
- Variant:14
- Variant:36
- CAID:CA497925664
- CAID:CA397842793
- CAID:CA397832401
- Variant:49
- CAID:CA497717451
- Variant:31
- Variant:27
- CAID:CA16620623
- CAID:CA000468
- CAID:CA000387
- Variant:28
- ClinVarID:182957
- Variant:29
- Variant:22
- Variant:39
- ClinVarID:12366
- CAID:CA16603061
- CAID:CA000259
- Variant:35
- Variant:20
- ClinVarID:127825
- Variant:21
- Variant:33
- Variant:17
- ClinVarID:12347
- Variant:12
- Variant:18
- Variant:45
- CAID:CA000308
- Variant:38
- ClinVarID:141114
- CAID:CA000382
- ClinVarID:12374
- Variant:32
- CAID:CA000102
- CAID:CA000013
- CAID:CA1139768487
- Variant:9
- CAID:CA16603074
- CAID:CA000071
- CAID:CA000144
- ClinVarID:127824
- Variant:5
- Variant:19
- CAID:CA000457
- Variant:43
- Variant:2
- CAID:CA397844631
- Variant:8
- Variant:48
- CAID:CA645588451
- ClinVarID:376613
- ClinVarID:376644
- CAID:CA000073
- Variant:42
- ClinVarID:458555
Annotators
URL
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- Jan 2019
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journals.plos.org journals.plos.org
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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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Local file Local file
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Upon specifying the ACMG/AMP rules,conferencecallsandemailcorrespondencewereusedforthevariantpilotusingasetof51variantsfromninecommonHLgenesthatrepre-sentthevariedinheritancepatterns,evidencetypes,andphenotypicspectrumseenacrossHLcohorts(seeVariantPilotmethodsbelow).ThefinalsetofspecifiedrulesisshowninTable1.
Variant selection for pilot
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