Varporter解析結果サンプル【TP53】

Varporter for FoundationOne v1.9.4で,2024年9月にリリースされたClinGenのTP53 ACMGバリアント評価ガイドライン [ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.1.0] に基づく病原性分類のうち,PS3, PM1, PP3, BS3, BP4に対応しました.また,gnomAD, ToMMoでのアリル頻度が0.00003未満の場合はPM2_Supportingが該当となります.

これらの項目で以下の場合,Likely Pathogenic以上となります.

TP53 TP53:PS3,BS3 Kato:Nut:Eto:Kotler TP53:PM1,PP3,BP4 aGVGD:BayesDel
Y205S PS3Str:v2,PS3:v1 9.6:1.585:-1.544:0.52 PM1Sup,PP3Mod C65:0.5647
Y205C PS3Str:v2,PS3:v1 10.1125:1.741:-1.639:0.233 PM1Mod,PP3Mod C65:0.5835
H214R PS3Str:v2,PS3:v1 9.7625:1.66:-0.884:-0.038 PM1Mod,NA C0:0.4107
S215G PS3Str:v2,PS3:v1 9.45:1.468:-1.189:-0.206 PM1Sup,NA C0:0.321
V216L PS3Str:v2,PS3:v1 8.1125:1.039:-0.337:-0.094 PM1Sup,PP3Sup C25:0.5551
V216M PS3Str:v2,PS3:v1 2.7:1.834:-1.134:0.281 PM1Mod,NA C15:0.5501
V217G PS3Str:v2,PS3:v1 10.55:0.656:-1.516:-0.05 NA,NA C0:0.2361
V218G NA:v2,NA:v1 119.6625:0.84:-1.58:-0.06 NA,PP3Sup C35:0.6024
Y220D PS3Str:v2,PS3:v1 1.325:1.665:-1.396:0.309 PM1Sup,PP3Mod C65:0.6033
Y220H PS3Str:v2,PS3:v1 1.8375:1.45:-0.732:0.399 PM1Sup,PP3Mod C65:0.4729
Y220C PS3Str:v2,PS3:v1 2.85:1.526:-1.146:0.094 PM1Mod,PP3Mod C65:0.5625
E224D BS3Str:v2,BS3:v1 110.225:0.264:0.558:-1.731 NA,BP4 C15:0.1232
Y236C PS3Str:v2,PS3:v1 3.625:1.851:-1.005:0.482 PM1Mod,PP3Sup C55:0.4057
M237I PS3Str:v2,PS3:v1 2.125:1.416:-0.67:0.471 PM1Mod,NA C0:0.4419
C238S PS3Str:v2,PS3:v1 13.85:1.76:-0.721:0.134 PM1Sup,PP3Mod C65:0.5997
C238Y PS3Str:v2,PS3:v1 16.1:1.864:-1.508:0.683 PM1Mod,PP3Mod C65:0.5997
S240G PS3Mod:v2,Conf.:v1 29.8875:1.132:-0.488:-1.033 NA,PP3Sup C55:0.2495
S241P PS3Str:v2,PS3:v1 0.1125:1.996:-0.875:0.426 PM1Sup,PP3Mod C65:0.5417
S241F PS3Str:v2,PS3:v1 0.1375:0.854:-1.463:-0.136 PM1Mod,PP3Mod C65:0.545
S241C PS3Str:v2,PS3:v1 0.125:1.577:-1.574:-0.174 PM1Mod,PP3Mod C65:0.5101
G245C PS3Str:v2,PS3:v1 0.0375:1.218:0.044:0.306 PM1Mod,PP3Mod C65:0.5982
G245S PS3Str:v2,PS3:v1 4.2:1.146:-0.711:0.396 PM1Mod,PP3Sup C55:0.5536
G245F PS3Sup:v2,PS3Mod:v1 NA:2.445:-1.817:-0.037 NA,NA C65:0
G245D PS3Str:v2,PS3:v1 4.375:1.312:0.313:0.288 PM1Mod,PP3Mod C65:0.5986
G245V PS3Str:v2,PS3:v1 0:1.951:-0.326:0.411 PM1Mod,PP3Mod C65:0.5986
R248W PS3Str:v2,PS3:v1 0.0875:1.553:-0.689:-0.035 PM1Mod,PP3Mod C65:0.5336
R248Q PS3Str:v2,PS3:v1 0.2125:1.233:-0.985:-0.487 PM1Mod,PP3Sup C35:0.4738
R249W PS3Str:v2,PS3:v1 1.4875:2.273:-1.106:0.286 PM1Mod,PP3Mod C65:0.4982
R249G PS3Str:v2,PS3:v1 0.65:1.371:-0.817:0.322 PM1Mod,PP3Mod C65:0.4881
P250L PS3Str:v2,PS3:v1 5.825:1.682:-0.638:-0.18 PM1Mod,PP3Sup C35:0.6029
I254N PS3Str:v2,PS3:v1 14.225:1.382:-1.59:-0.117 NA,PP3Mod C65:0.5449
I254T PS3Str:v2,PS3:v1 13.4375:0.948:-0.862:-0.233 NA,PP3Mod C65:0.5982
I255N PS3Str:v2,PS3:v1 12.0625:1.68:-1.296:-0.475 PM1Sup,PP3Mod C65:0.3476
T256P PS3Str:v2,PS3:v1 10.725:1.658:-0.31:0.117 NA,PP3Sup C35:0.5716
L257P PS3Str:v2,PS3:v1 15.85:1.686:-1.252:0.196 PM1Sup,PP3Mod C65:0.6049
G262V PS3Str:v2,PS3:v1 12.3875:0.97:-0.64:0.286 PM1Mod,PP3Mod C65:0.5903
G266R PS3Str:v2,PS3:v1 12.5375:1.579:-1.22:0.323 PM1Mod,PP3Mod C65:0.5986
G266V PS3Str:v2,PS3:v1 0.2125:1.108:-0.302:0.25 PM1Mod,PP3Mod C65:0.599
G266E PS3Str:v2,PS3:v1 1.65:1.557:-1.023:0.653 PM1Mod,PP3Mod C65:0.599
R267W PS3Str:v2,PS3:v1 15.8875:1.03:0.071:-0.646 PM1Mod,PP3Mod C65:0.5424
R273C PS3Str:v2,PS3:v1 0.7625:1.261:-0.93:0.14 PM1Mod,PP3Mod C65:0.5537
R273H PS3Str:v2,PS3:v1 2.5125:1.146:-1.438:0.535 PM1Mod,PP3Sup C25:0.5259
R273L PS3Str:v2,PS3:v1 0.175:1.346:-0.891:-0.023 PM1Mod,PP3Mod C65:0.5913
V274A PS3Str:v2,PS3:v1 6.8125:1.764:-0.996:-0.223 PM1Mod,PP3Sup C55:0.3106
P278L PS3Str:v2,PS3:v1 2.7375:1.713:-1.437:0.545 PM1Mod,PP3Mod C65:0.5837
R280G PS3Str:v2,PS3:v1 13.225:1.25:-1.214:-0.522 PM1Mod,PP3Mod C65:0.5374
R280K PS3Str:v2,PS3:v1 0.6125:0.37:-1.569:0.187 PM1Mod,PP3Sup C25:0.5921
D281E PS3Str:v2,PS3:v1 2.7:0.222:-0.558:0.15 PM1Mod,PP3Sup C35:0.5464
R282W PS3Str:v2,PS3:v1 0.175:1.591:-0.757:0.558 PM1Mod,PP3Mod C65:0.5418
R282Q PS3Mod:v2,PS3Mod:v1 42.0625:0.671:0.206:-0.311 PM1Sup,PP3Sup C35:0.4777
R283P PS3Str:v2,PS3:v1 4.4:1.564:-1.419:0.571 NA,PP3Sup C35:0.2722
E285K PS3Str:v2,PS3:v1 4.0625:1.843:-1.495:0.229 PM1Mod,PP3Sup C55:0.4445
E286K PS3Str:v2,PS3:v1 16.5625:1.54:-1.403:0.35 PM1Mod,PP3Sup C55:0.5759

【旧バージョン】

ClinGenのTP53バリアントの評価基準 [ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2]に基づくACMGガイドラインによる病原性分類のうち,PS3(Strong),PP3(Supporting)の判定結果を表示します.(2nd assayとして,KotlerによるRFSスコアを使用)
PS3, PP3ともYが該当,MがModerateに該当,ドットが非該当を示します.また,gnomADでのアリル頻度がゼロの場合はPM2_Supportingが該当となります.
1 Strong (PS3) and 1–2 Moderate (PP3_Moderate)または1 Strong (PS3) and ≥2 Supporting (PP3, PM2_Supporting)の場合,Likely Pathogenic以上となります.

※Web変換のため実際のExcelシートとは異なる場合があります.

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TP53
SNV
TP53
PS3
Kato p53WT
Nutlin-3
p53null
Etoposide
Kotler TP53
PP3
aGVGD BayesDel
S367I . 81.225 -0.391906 0.9251489 NA . C0 -0.0033
A189V . 87.3 0.0415607 0.7623459 -2.110461 Y C55 0.4162
R267W Y 15.8875 1.0303614 0.0708455 -0.645608 M C65 0.5424
V172F Y 16.75 0.8666621 -0.008719 -0.105421 Y C45 0.5464
V157F Y 10.85 0.676287 0.0137012 0.4982616 . C0 0.3141
G266V Y 0.2125 1.1079042 -0.302198 0.2498655 M C65 0.599
P151H Y 9.8875 0.8709878 -0.03917 -0.900089 M C65 0.3202
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
R248W Y 0.0875 1.5527183 -0.689231 -0.035209 M C65 0.5336
E11Q . 126.875 -0.906977 0.1486976 NA . C0 0.089
H193R Y 10.25 1.8354543 -1.178292 0.3785931 Y C25 0.5585
R248Q Y 0.2125 1.2334799 -0.985385 -0.487336 Y C35 0.4738
E286K Y 16.5625 1.539525 -1.402626 0.3502721 Y C55 0.5759
P151A Y 7.975 1.3797222 -1.257323 NA Y C25 0.5045
R282W Y 0.175 1.590703 -0.757142 0.5583318 M C65 0.5418
R273H Y 2.5125 1.1455008 -1.438387 0.5352272 Y C25 0.5259
E286K Y 16.5625 1.539525 -1.402626 0.3502721 Y C55 0.5759
G245C Y 0.0375 1.2177589 0.0442445 0.3055388 M C65 0.5982
S241F Y 0.1375 0.853788 -1.462822 -0.135971 M C65 0.545
V173E Y 9.1625 1.4799595 -0.308653 0.3475493 M C65 0.5399
I195T Y 12.8625 1.5981325 -1.092308 0.4104183 Y C55 0.5174
A189V . 87.3 0.0415607 0.7623459 -2.110461 Y C55 0.4162
R158H M 26.775 0.9044447 -0.359973 -0.597958 Y C25 0.5337
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
I195F Y 11.475 1.6707405 -1.231068 0.2393062 . C0 0.5292
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
L111M . 34.6375 0.5759272 0.1144739 -1.099653 . C0 0.0627
R282W Y 0.175 1.590703 -0.757142 0.5583318 M C65 0.5418
R282W Y 0.175 1.590703 -0.757142 0.5583318 M C65 0.5418
Y205S Y 9.6 1.5848924 -1.543896 0.5198414 M C65 0.5647
R248W Y 0.0875 1.5527183 -0.689231 -0.035209 M C65 0.5336
R282W Y 0.175 1.590703 -0.757142 0.5583318 M C65 0.5418
R273H Y 2.5125 1.1455008 -1.438387 0.5352272 Y C25 0.5259
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
C135G Y 15.775 1.6103877 -1.515428 0.2874612 M C65 0.5991
R248Q Y 0.2125 1.2334799 -0.985385 -0.487336 Y C35 0.4738
Y220D Y 1.325 1.6646503 -1.39619 0.3087263 M C65 0.6033
V173L Y 1.1875 0.8442755 0.0502555 0.4653484 Y C25 0.4928
V217G Y 10.55 0.6558694 -1.516094 -0.050305 . C0 0.2361
R175H Y 10.1125 1.7913881 -0.744765 0.2861425 Y C25 0.5462
C135Y Y 9.2125 1.5165709 -0.812133 0.1868191 M C65 0.5754
H179Y M 28.1375 1.7921804 -0.375754 0.5628114 M C65 0.6022
R273C Y 0.7625 1.2613473 -0.930398 0.1399777 M C65 0.5537
I195T Y 12.8625 1.5981325 -1.092308 0.4104183 Y C55 0.5174
G245S Y 4.2 1.1463839 -0.71064 0.3955569 Y C55 0.5536
R248W Y 0.0875 1.5527183 -0.689231 -0.035209 M C65 0.5336
T256P Y 10.725 1.6577151 -0.310277 0.1169599 Y C35 0.5716
C176F M 39.6875 1.7262173 -0.345566 0.1943567 M C65 0.5796
 

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