Hypothesis

4,038 Matching Annotations

Mar 2021
www.cell.com www.cell.com

High-Throughput Reclassification of SCN5A Variants

6
1. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.2254G>A p.(Gly752Arg)
  
  CGType:Variant CG:BulkAnnotation Variant:16 ClinVarID:67723 CAID:CA016002
2. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.1859G>A p.(Arg620His)
  
  CGType:Variant CG:BulkAnnotation Variant:10 CAID:CA058963
3. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.1058C>T p.(Thr353Ile)
  
  CGType:Variant CG:BulkAnnotation Variant:4 ClinVarID:67631 CAID:CA014257
4. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.659C>T p.(Thr220Ile)
  
  CGType:Variant CG:BulkAnnotation Variant:78 ClinVarID:9396 CAID:CA019690
5. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.361C>T p.(Arg121Trp)
  
  CGType:Variant CG:BulkAnnotation Variant:37 ClinVarID:67807 CAID:CA017341
6. shannon_mcnulty 18 Mar 2021
  
  in Public
  
  we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
  
  HGVS: NM_198056.2:c.26G>T p.(Gly9Val)
  
  CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:67751 CAID:CA016420
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CG:BulkAnnotation

CGType:Variant

CAID:CA016420

CAID:CA019690

CAID:CA017341

Variant:4

Variant:29

ClinVarID:9396

Variant:37

ClinVarID:67631

CAID:CA058963

ClinVarID:67807

ClinVarID:67751

ClinVarID:67723

Variant:16

CAID:CA014257

Variant:10

CAID:CA016002

Variant:78

Annotators

shannon_mcnulty

URL

cell.com/ajhg/fulltext/S0002-9297(20)30162-2
www.theguardian.com www.theguardian.com

How a string of failures by the British government helped Covid-19 to mutate | Anthony Costello

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  the Guardian. ‘How a String of Failures by the British Government Helped Covid-19 to Mutate | Anthony Costello’, 22 December 2020. http://www.theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur.
  
  is:article lang:en COVID-19 british government failures mutation covid mutations coronavirus England UK United Kingdom supressing the virus zero covid mutant variant genetic sequences
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british government

United Kingdom

England

is:article

zero covid

coronavirus

UK

supressing the virus

lang:en

mutant variant

genetic sequences

mutation

COVID-19

covid mutations

failures

Annotators

sophia.sterckx

URL

theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur
www.bloomberg.com www.bloomberg.com

Moderna Plans Multi-Pronged Approach on Virus Variants

1
1. zoe_ikeotuonye 15 Mar 2021
  
  in BehSci
  
  Moderna Plans Multi-Pronged Approach on Virus Variants. (2021, February 24). Bloomberg.Com. https://www.bloomberg.com/news/articles/2021-02-24/moderna-plans-multi-pronged-approach-to-tackling-virus-variants
  
  is:news COVID-19 virus variant vaccination vaccine policy health research pandemic strategy
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variant

vaccination

virus

is:news

vaccine

health

research

strategy

pandemic

COVID-19

policy

Annotators

zoe_ikeotuonye

URL

bloomberg.com/news/articles/2021-02-24/moderna-plans-multi-pronged-approach-to-tackling-virus-variants
www.newscientist.com www.newscientist.com

What you need to know about the new variant of coronavirus in the UK

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  Page, Michael Le. ‘What You Need to Know about the New Variant of Coronavirus in the UK’. New Scientist. Accessed 25 February 2021. https://www.newscientist.com/article/2263077-what-you-need-to-know-about-the-new-variant-of-coronavirus-in-the-uk/.
  
  is:news lang:en coronavirus COVID-19 United Kingdom UK new variant variant rapid spread transmissible spread of variant south africa vaccines lockdown pandemic quarantine
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variant

United Kingdom

is:news

coronavirus

rapid spread

pandemic

transmissible

COVID-19

spread of variant

new variant

lockdown

south africa

vaccines

UK

lang:en

quarantine

Annotators

sophia.sterckx

URL

newscientist.com/article/2263077-what-you-need-to-know-about-the-new-variant-of-coronavirus-in-the-uk/
www.nytimes.com www.nytimes.com

As the U.S. surpasses 24 million cases, Los Angeles confronts a more contagious variant.

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  Tompkins, Lucy, and Carl Zimmer. ‘As the U.S. Surpasses 24 Million Cases, Los Angeles Confronts a More Contagious Variant.’ The New York Times, 18 January 2021, sec. U.S. https://www.nytimes.com/2021/01/18/us/as-the-us-surpasses-24-million-cases-los-angeles-confronts-a-more-contagious-variant.html.
  
  is:article lang:en COVID-19 coronavirus hospitals United States USA coronavirus cases los angeles covid-19 death rates national death toll hospitalisation new variant spread of variant variant contagious
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variant

hospitals

is:article

coronavirus cases

coronavirus

los angeles

COVID-19

spread of variant

covid-19 death rates

new variant

hospitalisation

contagious

United States

lang:en

USA

national death toll

Annotators

sophia.sterckx

URL

nytimes.com/2021/01/18/us/as-the-us-surpasses-24-million-cases-los-angeles-confronts-a-more-contagious-variant.html
www.sciencemag.org www.sciencemag.org

Mutant coronavirus in the United Kingdom sets off alarms, but its importance remains unclear

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  ‘Mutant Coronavirus in the United Kingdom Sets off Alarms, but Its Importance Remains Unclear | Science | AAAS’. Accessed 25 February 2021. https://www.sciencemag.org/news/2020/12/mutant-coronavirus-united-kingdom-sets-alarms-its-importance-remains-unclear.
  
  is:article lang:en COVID-19 United Kingdom mutant mutation variant spread of corona pandemic global pandemic
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variant

United Kingdom

global pandemic

is:article

spread of corona

pandemic

mutant

lang:en

mutation

COVID-19

Annotators

sophia.sterckx

URL

sciencemag.org/news/2020/12/mutant-coronavirus-united-kingdom-sets-alarms-its-importance-remains-unclear
www.reuters.com www.reuters.com

Exclusive: Oxford study indicates AstraZeneca effective against Brazil variant, source says

1
1. sophia.sterckx 15 Mar 2021
  
  in BehSci
  
  Gaier, Rodrigo Viga. ‘Exclusive: Oxford Study Indicates AstraZeneca Effective against Brazil Variant, Source Says’. Reuters, 5 March 2021. https://www.reuters.com/article/us-health-coronavirus-brazil-variant-exc-idUSKBN2AX1NS.
  
  is:article lang:en Brazil Rio De Janeiro Oxford University COVID-19 vaccine AstraZeneca new variant variant efficacy of vaccine P1 south african variant
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variant

south african variant

Rio De Janeiro

new variant

is:article

vaccine

efficacy of vaccine

P1

lang:en

AstraZeneca

Brazil

Oxford University

COVID-19

Annotators

sophia.sterckx

URL

reuters.com/article/us-health-coronavirus-brazil-variant-exc-idUSKBN2AX1NS
www.gov.uk www.gov.uk

Investigation of novel SARS-CoV-2 variant: Variant of Concern 202012/01

1
1. emilybiggs 15 Mar 2021
  
  in BehSci
  
  Investigation of novel SARS-CoV-2 variant: Variant of Concern 202012/01. (n.d.). GOV.UK. Retrieved March 11, 2021, from https://www.gov.uk/government/publications/investigation-of-novel-sars-cov-2-variant-variant-of-concern-20201201
  
  is:webpage lang:en COVID-19 government UK variant concern Public Health England investigation
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is:webpage

variant

investigation

concern

Public Health England

government

UK

lang:en

COVID-19

Annotators

emilybiggs

URL

gov.uk/government/publications/investigation-of-novel-sars-cov-2-variant-variant-of-concern-20201201
github.com github.com

Reopening #162: config.assets.debug = true still compiles everything into single CSS/JS files? · Issue #688 · rails/sprockets

1
1. TylerRick 10 Mar 2021
  
  in Public
  
  Reopening #162
  
  https://github.com/rails/sprockets/issues/162 was already closed as duplicated (so this just creates another duplicate).
  
  Technically this could be added there.
  
  Oh, I see, it was from so long ago (2015), that it would probably be frowned upon to reopen such an old issue.
  
  issues: reopening why? when to create new issue/question vs. add additional details/variant to existing necroposting (posting to a long-inactive discussion thread)
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necroposting (posting to a long-inactive discussion thread)

why?

when to create new issue/question vs. add additional details/variant to existing

issues: reopening

Annotators

TylerRick

URL

github.com/rails/sprockets/issues/688
www.medrxiv.org www.medrxiv.org

Case fatality risk of the SARS-CoV-2 variant of concern B.1.1.7 in England

1
1. NatasjaDerbyMcCabe 10 Mar 2021
  
  in BehSci
  
  Grint, D. J., Wing, K., Williamson, E., McDonald, H. I., Bhaskaran, K., Evans, D., Evans, S. J., Walker, A. J., Hickman, G., Nightingale, E., Schultze, A., Rentsch, C. T., Bates, C., Cockburn, J., Curtis, H. J., Morton, C. E., Bacon, S., Davy, S., Wong, A. Y., … Eggo, R. M. (2021). Case fatality risk of the SARS-CoV-2 variant of concern B.1.1.7 in England. MedRxiv, 2021.03.04.21252528. https://doi.org/10.1101/2021.03.04.21252528
  
  is:preprint lang:en COVID-19 variant B117 mortality rates UK Kent pandemic planning spread comorbidities age region week ethnicity
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variant

comorbidities

region

ethnicity

pandemic planning

Kent

spread

week

age

UK

lang:en

is:preprint

B117

mortality rates

COVID-19

Annotators

NatasjaDerbyMcCabe

URL

medrxiv.org/content/10.1101/2021.03.04.21252528v2
twitter.com twitter.com

ReconfigBehSci on Twitter

1
1. NatasjaDerbyMcCabe 02 Mar 2021
  
  in BehSci
  
  ReconfigBehSci on Twitter: ‘RT @AdamJKucharski: Summary of NERVTAG view on new SARS-CoV-2 variant, from 18 Dec (full document here: Https://t.co/yll9beVI9A) https://t.…’ / Twitter. (n.d.). Retrieved 2 March 2021, from https://twitter.com/SciBeh/status/1341034652082036739
  
  is:tweet lang:en COVID-19 variant genomic data growth rate transmissibility cases distribution mutations antigen gylcoprotein UK London South East East reinfection readmission case fatality age distribution neutralize post-immunization lateral flow
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antigen

variant

transmissibility

case fatality

South East

cases

East

London

lateral flow

distribution

age distribution

COVID-19

is:tweet

mutations

readmission

post-immunization

neutralize

reinfection

UK

genomic data

lang:en

gylcoprotein

growth rate

Annotators

NatasjaDerbyMcCabe

URL

twitter.com/SciBeh/status/1341034652082036739
www.youtube.com www.youtube.com

#COVID19 LIVE Q&A virus variants with Dr M. Ryan and Dr M. Van Kerkhove - #AskWHO of 27 January 2021

1
1. forbriger 01 Mar 2021
  
  in BehSci
  
  World Health Organization (WHO). (2021, January 27). #COVID19 LIVE Q&A virus variants with Dr M. Ryan and Dr M. Van Kerkhove - #AskWHO of 27 January 2021. https://www.youtube.com/watch?v=4SxRq45yVFY
  
  is:youtube lang:en COVID-19 video discussion variant WHO
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is:youtube

variant

video

WHO

lang:en

COVID-19

discussion

Annotators

forbriger

URL

youtube.com/watch
theo.io theo.io

New-variant compatibility in the ONS infection survey | Theo Sanderson

1
1. zoe_ikeotuonye 01 Mar 2021
  
  in BehSci
  
  Sanderson, T. (2021, January 22). New-variant compatibility in the ONS infection survey. Theo Sanderson. /post/2021-01-22-ons-data/
  
  lang:en is:webpage variant infection survey case COVID-19 pandemic
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is:webpage

variant

survey

infection

lang:en

case

pandemic

COVID-19

Annotators

zoe_ikeotuonye

URL

theo.io/post/2021-01-22-ons-data/
Feb 2021
jmg.bmj.com jmg.bmj.com

Blood functional assay for rapid clinical interpretation of germline TP53 variants

165
1. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.844C>T p.(Arg282Trp)
  
  CGType:Variant Variant:46 ClinVarID:12364 CAID:CA000454
2. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.736A>G p.(Met246Val)
  
  CGType:Variant Variant:37 ClinVarID:100815 CAID:CA000374
3. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.638G>A p.(Arg213Gln)
  
  CGType:Variant Variant:30 ClinVarID:135359 CAID:CA000302
4. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.535C>T p.(His179Tyr)
  
  CGType:Variant Variant:24 ClinVarID:127815 CAID:CA000256
5. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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)(29+1-28+1)del p.?
  
  Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.
  
  CGType:Variant Variant:3
6. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 69, 73
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:4 CAID:CA000049 ClinVarID:35555
7. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 100
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:1 CAID:CA1139768486
8. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 95
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:42 CAID:CA645588451
9. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 80, 99
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:17 CAID:CA10584593 ClinVarID:246343
10. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 94
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:12 CAID:CA1139768485
11. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 101, 106
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:7 CAID:CA397832246 ClinVarID:481148
12. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 89, 90
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:6 CAID:CA397832401
13. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 88
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:48 CAID:CA000457 ClinVarID:127824
14. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 79
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:48 CAID:CA000457 ClinVarID:127824
15. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 78
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:45 CAID:CA16603061 ClinVarID:376644
16. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 90
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:26 CAID:CA000272 ClinVarID:127816
17. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:20 CAID:CA000225 ClinVarID:127812
18. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 78
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:18 CAID:CA397842793
19. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:15 CAID:CA000123 ClinVarID:127808
20. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 82
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:10 CAID:CA000102 ClinVarID:141114
21. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:8 CAID:CA000071 ClinVarID:185120
22. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 118
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:35 CAID:CA000343 ClinVarID:127821 ValidationControl:Benign
23. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 62
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
24. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 56, 52
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
25. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 61
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
26. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 101
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
27. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
28. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 102
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
29. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 81
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
30. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:4 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
31. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.761T>C p.(Ile254Thr)
  
  CGType:Variant Variant:40 CAID:CA397837761
32. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
33. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
34. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.5, 5.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:4 CAID:CA000049 ClinVarID:35555
35. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 20.5
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:1 CAID:CA1139768486
36. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:42 CAID:CA645588451
37. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.6, 4.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:17 CAID:CA10584593 ClinVarID:246343
38. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:12 CAID:CA1139768485
39. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4, 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:7 CAID:CA397832246 ClinVarID:481148
40. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8, 6.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:6 CAID:CA397832401
41. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.3
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
42. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:45 CAID:CA16603061 ClinVarID:376644
43. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 17.1
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:26 CAID:CA000272 ClinVarID:127816
44. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:20 CAID:CA000225 ClinVarID:127812
45. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:18 CAID:CA397842793
46. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:15 CAID:CA000123 ClinVarID:127808
47. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:10 CAID:CA000102 ClinVarID:141114
48. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:8 CAID:CA000071 ClinVarID:185120
49. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 12.9
  
  AssayResultAssertion: Normal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:35 CAID:CA000343 ClinVarID:127821 ValidationControl:Benign
50. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
51. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
52. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
53. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
54. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
55. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
56. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
57. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S3 for details
  
  CGType:FunctionalAssayResult FuncAssay:3 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
58. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 82
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
59. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 80
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
60. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 69
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
61. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 99
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
62. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
63. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 77
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
64. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 105
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
65. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
66. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 104
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
67. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 99
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
68. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
69. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 91
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
70. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 86
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
71. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 56
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
72. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 61
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
73. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 51
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
74. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 66
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
75. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 60
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
76. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 65
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
77. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 66
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
78. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 45
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
79. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 58
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:3 ValidationControl:Pathogenic
80. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 49
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:2 ValidationControl:Pathogenic
81. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 83
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
82. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 84
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
83. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 91
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
84. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 94
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
85. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 97
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
86. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 98
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
87. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 96
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
88. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 105
  
  AssayResultAssertion: Normal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:2 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
89. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
90. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
91. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
92. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
93. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.572C>G p.(Pro191Arg)
  
  CGType:Variant Variant:26 ClinVarID:127816 CAID:CA000272
94. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
95. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
96. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
97. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
98. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
99. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
100. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
101. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
102. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
103. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6.7
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
104. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 10.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
105. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
106. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4.9
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
107. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 8.6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
108. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
109. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
110. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.4
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
111. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:3 ValidationControl:Pathogenic
112. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 7.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:2 ValidationControl:Pathogenic
113. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
114. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
115. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
116. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 2.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
117. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.1
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
118. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.6
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
119. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 3.5
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
120. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  Supplemental material
  
  AssayResult: 5.8
  
  AssayResultAssertion: Abnormal
  
  Comment: See Table S2 for details
  
  CGType:FunctionalAssayResult FuncAssay:1 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
121. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.*1175A>C
  
  CGType:Variant Variant:4 ClinVarID:35555 CAID:CA000049
122. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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.-117G>T
  
  CGType:Variant Variant:1 CAID:CA1139768486
123. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
124. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
125. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
126. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
127. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
128. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
129. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
130. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
131. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
132. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
133. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
134. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
135. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
136. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
137. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
138. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
139. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
140. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
141. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
142. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
143. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
144. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
145. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
146. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
147. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
148. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
149. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
150. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
151. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
152. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
153. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
154. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
155. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
156. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
157. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
158. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
159. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
160. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
161. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
162. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
163. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
164. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
165. shannon_mcnulty 24 Feb 2021
  
  in Public
  
  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
Visit annotations in context

Tags

Variant:20

ValidationControl:Pathogenic

CAID:CA000468

CAID:CA000144

ClinVarID:420137

ClinVarID:246343

Variant:32

CAID:CA000071

CAID:CA1139768486

Variant:8

Variant:25

CAID:CA000225

Variant:22

Variant:19

ClinVarID:458555

Variant:12

Variant:24

ClinVarID:376644

Variant:34

CAID:CA000387

CAID:CA16603061

ClinVarID:481148

Variant:31

Variant:23

Variant:49

ClinVarID:142320

ClinVarID:428860

Variant:26

CAID:CA16620623

CAID:CA000302

ClinVarID:127824

Variant:35

Variant:44

CAID:CA1139768487

Variant:42

ClinVarID:12379

CAID:CA397837761

Variant:30

Variant:45

CAID:CA497925664

CAID:CA397832401

CAID:CA000259

CAID:CA000454

CAID:CA000073

Variant:43

CAID:CA000106

ClinVarID:127821

Variant:47

ClinVarID:182965

FuncAssay:1

CAID:CA397842793

Variant:38

Variant:2

ClinVarID:41723

Variant:1

CAID:CA497717451

ClinVarID:12374

Variant:29

ClinVarID:634779

Variant:9

ClinVarID:12356

ClinVarID:177825

CAID:CA16603033

Variant:33

CAID:CA000272

ClinVarID:12347

Variant:7

Variant:46

CAID:CA000493

CAID:CA397844631

Variant:21

ClinVarID:376612

CAID:CA645588668

CAID:CA1139768485

Variant:16

CAID:CA645588451

Variant:10

CAID:CA1139768484

CAID:CA000049

CGType:Variant

ClinVarID:127808

CAID:CA645369686

CAID:CA000343

Variant:36

CAID:CA16603074

Variant:48

Variant:18

CGType:FunctionalAssayResult

ClinVarID:127812

ClinVarID:100815

ClinVarID:35555

CAID:CA000123

Variant:15

Variant:41

CAID:CA16603034

Variant:28

Variant:13

CAID:CA000382

ClinVarID:376613

CAID:CA397832246

CAID:CA397836336

Variant:37

CAID:CA397839547

Variant:6

ClinVarID:127825

ClinVarID:12364

Variant:17

Variant:11

CAID:CA497716198

Variant:14

FuncAssay:3

ValidationControl:Benign

FuncAssay:2

CAID:CA000374

CAID:CA000434

CAID:CA000256

ClinVarID:142702

ClinVarID:141114

Variant:27

Variant:4

ClinVarID:12366

CAID:CA000013

FuncAssay:4

Variant:3

CAID:CA000102

CAID:CA10584593

Variant:51

CAID:CA000251

Variant:40

CAID:CA000308

ClinVarID:376649

CAID:CA645588993

ClinVarID:182957

Variant:50

Variant:39

ClinVarID:185120

CAID:CA000457

ClinVarID:135359

ClinVarID:127816

ClinVarID:376659

CAID:CA16603066

ClinVarID:127815

Variant:5

Annotators

shannon_mcnulty

URL

jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059
www.theguardian.com www.theguardian.com

Travel bans aren't an effective response to the new Covid variant | Angela Rasmussen

1
1. XanaButt 24 Feb 2021
  
  in BehSci
  
  Travel bans aren’t an effective response to the new Covid variant | Angela Rasmussen. (2020, December 23). The Guardian. http://www.theguardian.com/commentisfree/2020/dec/23/travel-bans-effective-new-covid-variant
  
  is:news lang:en COVID-19 travel international ban UK variant tranmission government country France USA Europe
Visit annotations in context

Tags

ban

variant

tranmission

travel

country

is:news

government

international

UK

Europe

lang:en

USA

COVID-19

France

Annotators

XanaButt

URL

theguardian.com/commentisfree/2020/dec/23/travel-bans-effective-new-covid-variant
www.theguardian.com www.theguardian.com

Here's what we know about the new variant of coronavirus | Sharon Peacock

1
1. XanaButt 24 Feb 2021
  
  in BehSci
  
  Here’s what we know about the new variant of coronavirus | Sharon Peacock. (2020, December 22). The Guardian. http://www.theguardian.com/commentisfree/2020/dec/22/new-variant-coronavirus-genomic-sars-cov-2-pandemic
  
  is:news lang:en COVID-19 outdated variant mutation influenza UK genome protein tranmission Kent London
Visit annotations in context

Tags

variant

influenza

tranmission

is:news

protein

genome

Kent

outdated

London

UK

lang:en

mutation

COVID-19

Annotators

XanaButt

URL

theguardian.com/commentisfree/2020/dec/22/new-variant-coronavirus-genomic-sars-cov-2-pandemic
www.latimes.com www.latimes.com

California's coronavirus strain looks increasingly dangerous: 'The devil is already here'

1
1. zoe_ikeotuonye 24 Feb 2021
  
  in BehSci
  
  Facebook, Twitter, options, S. more sharing, Facebook, Twitter, LinkedIn, Email, URLCopied!, C. L., & Print. (2021, February 23). California’s coronavirus strain looks increasingly dangerous: ‘The devil is already here’. Los Angeles Times. https://www.latimes.com/science/story/2021-02-23/california-homegrown-coronavirus-strain-looks-increasingly-transmissible-and-dangerous
  
  is:news lang:en COVID-19 strain variant dominant strain transmission research vaccine vaccination antibody health USA infection disease science scientist
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Tags

variant

vaccination

antibody

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latimes.com/science/story/2021-02-23/california-homegrown-coronavirus-strain-looks-increasingly-transmissible-and-dangerous
www.nature.com www.nature.com

Confusion reigns over naming of new COVID variants

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1. jasminehollingworth 22 Feb 2021
  
  in BehSci
  
  Callaway, E. (2021). ‘A bloody mess’: Confusion reigns over naming of new COVID variants. Nature, 589(7842), 339–339. https://doi.org/10.1038/d41586-021-00097-w
  
  lang:en is:news COVID-19 virus WHO health official variant mutation global pandemic South Africa Brazil is:article
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jasminehollingworth

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nature.com/articles/d41586-021-00097-w
brief19.com brief19.com

Vaccinations Could Limit Further Mutations

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1. jasminehollingworth 18 Feb 2021
  
  in BehSci
  
  Vaccinations Could Limit Further Mutations. (n.d.). Retrieved 18 February 2021, from https://brief19.com/2021/02/17/brief
  
  lang:en is:other COVID-19 vaccine vaccination mutation population antibody inoculation infection variant immune selection pressure evolution replication transmission community immunization
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jasminehollingworth

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brief19.com/2021/02/17/brief
www.newscientist.com www.newscientist.com

Exclusive: Two variants have merged into heavily mutated coronavirus

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1. jasminehollingworth 17 Feb 2021
  
  in BehSci
  
  Lawton, G. (n.d.). Exclusive: Two variants have merged into heavily mutated coronavirus. New Scientist. Retrieved 17 February 2021, from https://www.newscientist.com/article/2268014-exclusive-two-variants-have-merged-into-heavily-mutated-coronavirus/
  
  lang:en is:news COVID-19 variant virus mutation mutated phase pandemic UK USA California anitbody
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newscientist.com/article/2268014-exclusive-two-variants-have-merged-into-heavily-mutated-coronavirus/
www.nytimes.com www.nytimes.com

7 Virus Variants Found in U.S. Carrying the Same Mutation

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1. jasminehollingworth 15 Feb 2021
  
  in BehSci
  
  Zimmer, C. (2021, February 14). 7 Virus Variants Found in U.S. Carrying the Same Mutation. The New York Times. https://www.nytimes.com/2021/02/14/health/coronavirus-variants-evolution.html
  
  lang:en is:news COVID-19 variant mutation USA contagious UK South Africa evolved research global virus evolution
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jasminehollingworth

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nytimes.com/2021/02/14/health/coronavirus-variants-evolution.html
www.medrxiv.org www.medrxiv.org

Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677

1
1. jasminehollingworth 15 Feb 2021
  
  in BehSci
  
  Hodcroft, E. B., Domman, D. B., Oguntuyo, K., Snyder, D. J., Diest, M. V., Densmore, K. H., Schwalm, K. C., Femling, J., Carroll, J. L., Scott, R. S., Whyte, M. M., Edwards, M. D., Hull, N. C., Kevil, C. G., Vanchiere, J. A., Lee, B., Dinwiddie, D. L., Cooper, V. S., & Kamil, J. P. (2021). Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677. MedRxiv, 2021.02.12.21251658. https://doi.org/10.1101/2021.02.12.21251658
  
  lang:en is:preprint COVID-19 protein variant amino acid respiratory antibody transmission New Mexico Louisiana infection USA sample bias evolution
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jasminehollingworth

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medrxiv.org/content/10.1101/2021.02.12.21251658v2
www.smh.com.au www.smh.com.au

Where did these COVID-19 variants come from – and what are they?

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1. jasminehollingworth 13 Feb 2021
  
  in BehSci
  
  Mannix, L. (2021, February 8). Where did these COVID-19 variants come from – and what are they? The Sydney Morning Herald. https://www.smh.com.au/national/what-do-new-variants-of-the-coronavirus-mean-for-us-20210126-p56wuo.html
  
  lang:en is:news COVID-19 variant risk chemotherapy disease autoimmune drug immune symptom global Australia lockdown South Africa Brazil pandemic mutation
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smh.com.au/national/what-do-new-variants-of-the-coronavirus-mean-for-us-20210126-p56wuo.html
cmmid.github.io cmmid.github.io

Estimated transmissibility and severity of novel SARS-CoV-2 Variant of Concern 202012/01 in England

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1. jasminehollingworth 12 Feb 2021
  
  in BehSci
  
  Estimated transmissibility and severity of novel SARS-CoV-2 Variant of Concern 202012/01 in England. (2020, December 23). CMMID Repository. https://cmmid.github.io/topics/covid19/uk-novel-variant.html
  
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cmmid.github.io/topics/covid19/uk-novel-variant.html
www.scientificamerican.com www.scientificamerican.com

The Second-Generation COVID Vaccines Are Coming

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1. jasminehollingworth 11 Feb 2021
  
  in BehSci
  
  Cormier, Z. (n.d.). The Second-Generation COVID Vaccines Are Coming. Scientific American. Retrieved 11 February 2021, from https://www.scientificamerican.com/article/the-second-generation-covid-vaccines-are-coming/
  
  lang:en is:news COVID-19 vaccine distribution efficacy production pandemic USA UK development transmission variant public carrier immunity
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scientificamerican.com/article/the-second-generation-covid-vaccines-are-coming/
www.bbc.co.uk www.bbc.co.uk

Covid vaccines extremely safe, finds UK regulator

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1. NatasjaDerbyMcCabe 10 Feb 2021
  
  in BehSci
  
  Covid vaccines extremely safe, finds UK regulator. (2021, February 5). BBC News. https://www.bbc.com/news/health-55946912
  
  is:news lang:en COVID-19 vaccines AstraZeneca COVID variant allergic reactions mutation vaccine safety Pfizer-BioNTech symptoms
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NatasjaDerbyMcCabe

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bbc.co.uk/news/health-55946912
papers.ssrn.com papers.ssrn.com

SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines

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1. jasminehollingworth 09 Feb 2021
  
  in BehSci
  
  Shen, X., Tang, H., McDanal, C., Wagh, K., Fischer, W. M., Theiler, J., Yoon, H., Li, D., Haynes, B. F., Saunders, K. O., Gnanakaran, S., Hengartner, N. W., Pajon, R., Smith, G., Dubovsky, F., Glenn, G. M., Korber, B. T., & Montefiori, D. C. (2021). SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines (SSRN Scholarly Paper ID 3777473). Social Science Research Network. https://papers.ssrn.com/abstract=3777473
  
  lang:en is:preprint COVID-19 vaccine mutation immune UK infection antibody neutralization effectiveness variant
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papers.ssrn.com/sol3/papers.cfm
Local file Local file

faq-coronavirus-2020-71379.pdf

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1. tanemika 09 Feb 2021
  
  in Public
  
  En cas de survenue d’un cas confirmé portant la variante britannique du SARS-CoV-2Conformément à l’avis du Conseil Scientifique, la confirmation d’un cas de variante britannique du virus SARS-CoV2 dans une classe doit conduire à la fermeture de la classe, dans les établissements d’enseignement du premier degré et du second degré. Les élèves de la classe sont donc assimilés à des contacts à risque. L’identification des contacts à risque parmi les personnels se fait dans les conditions décrites selon les règles définies par Santé publique France
  
  covid-19 coronavirus variant FAQ
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tanemika
Jan 2021
www.sciencemag.org www.sciencemag.org

New coronavirus variants could cause more reinfections, require updated vaccines

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1. marta_radosevic 20 Jan 2021
  
  in BehSci
  
  KupferschmidtJan. 15, K., 2021, & Pm, 4:55. (2021, January 15). New coronavirus variants could cause more reinfections, require updated vaccines. Science | AAAS. https://www.sciencemag.org/news/2021/01/new-coronavirus-variants-could-cause-more-reinfections-require-updated-vaccines
  
  is:webpage lang:en COVID-19 variant new strain reinfection vaccine research spread transmission update
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sciencemag.org/news/2021/01/new-coronavirus-variants-could-cause-more-reinfections-require-updated-vaccines
www.biorxiv.org www.biorxiv.org

http://biorxiv.org/cgi/content/short/2020.12.29.424715

1
1. pbk1 13 Jan 2021
  
  in Public
  
  This variant presents 14 non-synonymous mutations, 6 synonymous mutations and 3 deletions. The multiple mutations present in the viral RNA encoding for the spike protein (S) are of most concern, such as the deletion Δ69-70, deletion Δ144, N501Y, A570D, D614G, P681H, T716I, S982A, D1118H
  
  SARS-CoV-2 new variant B.1.1.7
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pbk1

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biorxiv.org/content/10.1101/2020.12.29.424715v1
medrxiv.org medrxiv.org

Detection of SARS-CoV-2 variants in Switzerland by genomic analysis of wastewater samples

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1. pbk1 11 Jan 2021
  
  in Public
  
  What would be the limit of detection of the new variants in the wastewater by this NGS based sequencing method?
  
  new variant SARS-CoV-2
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medrxiv.org/cgi/content/short/2021.01.08.21249379

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