TET2 c.2305C>T ;(p.Q769*)

Variant ID: 4-106157404-C-T

NM_001127208.2(TET2):c.2305C>T;(p.Q769*)

This variant was identified in 16 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: Q769*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TET2: Q769X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Immunity & Ageing : I & A
Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO
Publication Date: 2022-05-24

Variant appearance in text: TET2: Q769X
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



MGUS and clonal hematopoiesis show unrelated clinical and biological trajectories in an older population cohort.

Blood Advances
Da Vià, Matteo Claudio MC; Lionetti, Marta M; Marella, Alessio A; Matera, Antonio A; Travaglino, Erica E; Signaroldi, Elena E; Galbussera, Alessia Antonella AA; Lucca, Ugo U; Mandelli, Sara S; Riva, Emma E; Tettamanti, Mauro M; Pettine, Loredana L; Pompa, Alessandra A; Baldini, Luca L; Neri, Antonino A; Della Porta, Matteo Giovanni MG; Bolli, Niccolò N
Publication Date: 2022-11-08

Variant appearance in text: TET2: 2305C>T; Gln769Ter
PubMed Link: 35390146
Variant Present in the following documents:
  • BLOODA_ADV-2021-006498-mmc1.pdf
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: Q769*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: TET2: Q769*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: Q769X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified.

Nature Communications
Debackere, Koen K; Marcelis, Lukas L; Demeyer, Sofie S; Vanden Bempt, Marlies M; Mentens, Nicole N; Gielen, Olga O; Jacobs, Kris K; Broux, Michael M; Verhoef, Gregor G; Michaux, Lucienne L; Graux, Carlos C; Wlodarska, Iwona I; Gaulard, Philippe P; de Leval, Laurence L; Tousseyn, Thomas T; Cools, Jan J; Dierickx, Daan D
Publication Date: 2021-06-17

Variant appearance in text: TET2: Q769X
PubMed Link: 34140493
Variant Present in the following documents:
  • 41467_2021_24037_MOESM1_ESM.pdf
View BVdb publication page



Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: Q769*
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page



Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: Q769*
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page



Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: TET2: Q769*
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
  • 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: TET2: 2305C>T; Q769X; rs751233117
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Mutations in genes affecting DNA methylation enhances responses to decitabine in patients with myelodysplastic syndrome.

The Korean Journal Of Internal Medicine
Jung, Hyun Ae HA; Jung, Chul Won CW; Jang, Jun Ho JH
Publication Date: 2021-03

Variant appearance in text: TET2: 2305C>T; Gln769*
PubMed Link: 33086776
Variant Present in the following documents:
  • Main text
  • kjim-2019-385-suppl.pdf
  • kjim-2019-385.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: Q769X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: TET2: 2305C>T; Gln769Ter
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, 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: 2305C>T; Gln769*
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
View BVdb publication page



Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing.

Plos One
Hiemenz, Matthew C MC; Kadauke, Stephan S; Lieberman, David B DB; Roth, David B DB; Zhao, Jianhua J; Watt, Christopher D CD; Daber, Robert D RD; Morrissette, Jennifer J D JJ
Publication Date: 2016

Variant appearance in text: TET2: 2305C>T; Q769X
PubMed Link: 27043212
Variant Present in the following documents:
  • pone.0152851.s001.xlsx, sheet 4
  • pone.0152851.s001.xlsx, sheet 5
View BVdb publication page



Applicability of next-generation sequencing to decalcified formalin-fixed and paraffin-embedded chronic myelomonocytic leukaemia samples.

International Journal Of Clinical And Experimental Pathology
Bernard, Veronica V; Gebauer, Niklas N; Dinh, Thomas T; Stegemann, Judith J; Feller, Alfred C AC; Merz, Hartmut H
Publication Date: 2014

Variant appearance in text: TET2: Q769X
PubMed Link: 24817963
Variant Present in the following documents:
  • Main text
View BVdb publication page