TET2 c.3250C>T ;(p.Q1084*)

Variant ID: 4-106158349-C-T

NM_001127208.2(TET2):c.3250C>T;(p.Q1084*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: Q1084*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TET2: 3250C>T; Q1084*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clonal hematopoiesis of indeterminate potential-related epigenetic age acceleration correlates with clonal hematopoiesis of indeterminate potential clone size in patients with high morbidity.

Haematologica
Feldkamp, Jasper David JD; Vetter, Valentin Max VM; Arends, Christopher Maximilian CM; Lang, Tonio Johannes Lukas TJL; Bullinger, Lars L; Damm, Frederik F; Demuth, Ilja I; Frick, Mareike M
Publication Date: 2022-07-01

Variant appearance in text: TET2: 3250C>T; Gln1084*
PubMed Link: 35236052
Variant Present in the following documents:
  • 2021_280021_FELDKAMP_SUPPL.pdf
View BVdb publication page



Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances
Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L
Publication Date: 2022-04-12

Variant appearance in text: TET2: Q1084X
PubMed Link: 34654055
Variant Present in the following documents:
  • advancesADV2021006034-suppl1.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: Q1084X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Haematologica
Caprioli, Chiara C; Lussana, Federico F; Salmoiraghi, Silvia S; Cavagna, Roberta R; Buklijas, Ksenija K; Elidi, Lara L; Zanghi', Pamela P; Michelato, Anna A; Delaini, Federica F; Oldani, Elena E; Intermesoli, Tamara T; Grassi, Anna A; Gianfaldoni, Giacomo G; Mannelli, Francesco F; Ferrero, Dario D; Audisio, Ernesta E; Terruzzi, Elisabetta E; De Paoli, Lorella L; Cattaneo, Chiara C; Borlenghi, Erika E; Cavattoni, Irene I; Tajana, Monica M; Scattolin, Anna Maria AM; Mattei, Daniele D; Corradini, Paolo P; Campiotti, Leonardo L; Ciceri, Fabio F; Bernardi, Massimo M; Todisco, Elisabetta E; Cortelezzi, Agostino A; Falini, Brunangelo B; Pavoni, Chiara C; Bassan, Renato R; Spinelli, Orietta O; Rambaldi, Alessandro A
Publication Date: 2021-10-01

Variant appearance in text: TET2: 3250C>T; Gln1084*
PubMed Link: 32855275
Variant Present in the following documents:
  • 2020_252825_CAPRIOLI_SUPPL.pdf
View BVdb publication page



Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Mayo Clinic Proceedings
Mangaonkar, Abhishek A AA; Ferrer, Alejandro A; Pinto E Vairo, Filippo F; Cousin, Margot A MA; Kuisle, Ryan J RJ; Gangat, Naseema N; Hogan, William J WJ; Litzow, Mark R MR; McAllister, Tammy M TM; Klee, Eric W EW; Lazaridis, Konstantinos N KN; Stewart, A Keith AK; Patnaik, Mrinal M MM
Publication Date: 2019-09

Variant appearance in text: TET2: 3250C>T; Gln1084*
PubMed Link: 31256854
Variant Present in the following documents:
  • Main text
View BVdb publication page