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 |
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.
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 |