TET2 c.3743T>G ;(p.L1248R)

Variant ID: 4-106164875-T-G

NM_001127208.2(TET2):c.3743T>G;(p.L1248R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: TET2: 3743T>G; L1248R
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: TET2: 3743T>G; L1248R
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TET2: L1248R
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.

Blood Advances
Calvo, Xavier X; Roman-Bravo, David D; Garcia-Gisbert, Nieves N; Rodriguez-Sevilla, Juan Jose JJ; Garcia-Avila, Sara S; Florensa, Lourdes L; Gibert, Joan J; Fernández-Rodríguez, Concepción C; Salido, Marta M; Puiggros, Anna A; Espinet, Blanca B; Colomo, Luis L; Bellosillo, Beatriz B; Ferrer, Ana A; Arenillas, Leonor L
Publication Date: 2022-07-12

Variant appearance in text: TET2: 3743T>G; Leu1248Arg
PubMed Link: 35709473
Variant Present in the following documents:
  • advancesADV2022007359-suppl1.pdf
View BVdb publication page



Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology
Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A
Publication Date: 2021

Variant appearance in text: TET2: 3743T>G; L1248R
PubMed Link: 33791220
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: TET2: L1248R
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

The Journal Of Pathology
Yao, Wen-Qing WQ; Wu, Fangtian F; Zhang, Wenyan W; Chuang, Shih-Sung SS; Thompson, Joe S JS; Chen, Zi Z; Zhang, Shao-Wei SW; Clipson, Alexandra A; Wang, Ming M; Liu, Hongxiang H; Bibawi, Hani H; Huang, Yuanxue Y; Campos, Luis L; Grant, John W JW; Wright, Penny P; Ei-Daly, Hesham H; Rásó-Barnett, Lívia L; Farkas, Lorant L; Follows, George A GA; Gao, Zifen Z; Attygalle, Ayoma D AD; Ashton-Key, Margaret M; Liu, Weiping W; Du, Ming-Qing MQ
Publication Date: 2020-03

Variant appearance in text: TET2: L1248R
PubMed Link: 31859368
Variant Present in the following documents:
  • PATH-250-346-s001.pdf
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: TET2: 3743T>G; Leu1248Arg
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 3743T>G; Leu1248Arg; rs372179780
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Nature Communications
Merlevede, Jane J; Droin, Nathalie N; Qin, Tingting T; Meldi, Kristen K; Yoshida, Kenichi K; Morabito, Margot M; Chautard, Emilie E; Auboeuf, Didier D; Fenaux, Pierre P; Braun, Thorsten T; Itzykson, Raphael R; de Botton, Stéphane S; Quesnel, Bruno B; Commes, Thérèse T; Jourdan, Eric E; Vainchenker, William W; Bernard, Olivier O; Pata-Merci, Noemie N; Solier, Stéphanie S; Gayevskiy, Velimir V; Dinger, Marcel E ME; Cowley, Mark J MJ; Selimoglu-Buet, Dorothée D; Meyer, Vincent V; Artiguenave, François F; Deleuze, Jean-François JF; Preudhomme, Claude C; Stratton, Michael R MR; Alexandrov, Ludmil B LB; Padron, Eric E; Ogawa, Seishi S; Koscielny, Serge S; Figueroa, Maria M; Solary, Eric E
Publication Date: 2016-02-24

Variant appearance in text: TET2: L1248R
PubMed Link: 26908133
Variant Present in the following documents:
  • ncomms10767-s2.xls, sheet 1
View BVdb publication page