TET2 c.4657C>T ;(p.Q1553*)

Variant ID: 4-106196324-C-T

NM_001127208.2(TET2):c.4657C>T;(p.Q1553*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Publication Date: 2022-10-03

Variant appearance in text: TET2: 4657C>T; Gln1553*
PubMed Link: 36184726
Variant Present in the following documents:
  • 11357_2022_666_MOESM1_ESM.xlsx, sheet 2
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: Q1553X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: TET2: 4657C>T; Q1553*
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 4657C>T; Gln1553*
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 2
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: Q1553X
PubMed Link: 26908133
Variant Present in the following documents:
  • ncomms10767-s2.xls, sheet 1
View BVdb publication page



The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

British Journal Of Haematology
McNerney, Megan E ME; Brown, Christopher D CD; Peterson, April L AL; Banerjee, Mekhala M; Larson, Richard A RA; Anastasi, John J; Le Beau, Michelle M MM; White, Kevin P KP
Publication Date: 2014-08

Variant appearance in text: TET2: Q1553*
PubMed Link: 24931631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficacy of intermittent combined RAF and MEK inhibition in a patient with concurrent BRAF- and NRAS-mutant malignancies.

Cancer Discovery
Abdel-Wahab, Omar O; Klimek, Virginia M VM; Gaskell, Alisa A AA; Viale, Agnes A; Cheng, Donavan D; Kim, Eunhee E; Rampal, Raajit R; Bluth, Mark M; Harding, James J JJ; Callahan, Margaret K MK; Merghoub, Taha T; Berger, Michael F MF; Solit, David B DB; Rosen, Neal N; Levine, Ross L RL; Chapman, Paul B PB
Publication Date: 2014-05

Variant appearance in text: TET2: Q1553*
PubMed Link: 24589925
Variant Present in the following documents:
  • Main text
View BVdb publication page