TET2 c.3737C>A ;(p.S1246*)

Variant ID: 4-106164869-C-A

NM_001127208.2(TET2):c.3737C>A;(p.S1246*)

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: S1246*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: TET2: S1246*
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
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: 3737C>A; Ser1246Ter
PubMed Link: 35390146
Variant Present in the following documents:
  • BLOODA_ADV-2021-006498-mmc1.pdf
View BVdb publication page



Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer
Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y
Publication Date: 2022-03-12

Variant appearance in text: TET2: 3737C>A; Ser1246Ter
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM5_ESM.xlsx, sheet 1
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: S1246X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Nature Medicine
Li, Sheng S; Garrett-Bakelman, Francine E FE; Chung, Stephen S SS; Sanders, Mathijs A MA; Hricik, Todd T; Rapaport, Franck F; Patel, Jay J; Dillon, Richard R; Vijay, Priyanka P; Brown, Anna L AL; Perl, Alexander E AE; Cannon, Joy J; Bullinger, Lars L; Luger, Selina S; Becker, Michael M; Lewis, Ian D ID; To, Luen Bik LB; Delwel, Ruud R; Löwenberg, Bob B; Döhner, Hartmut H; Döhner, Konstanze K; Guzman, Monica L ML; Hassane, Duane C DC; Roboz, Gail J GJ; Grimwade, David D; Valk, Peter J M PJ; D'Andrea, Richard J RJ; Carroll, Martin M; Park, Christopher Y CY; Neuberg, Donna D; Levine, Ross R; Melnick, Ari M AM; Mason, Christopher E CE
Publication Date: 2016-07

Variant appearance in text: TET2: S1246X
PubMed Link: 27322744
Variant Present in the following documents:
  • NIHMS786454-supplement-7.xlsx, sheet 1
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: S1246X
PubMed Link: 26908133
Variant Present in the following documents:
  • ncomms10767-s4.xls, sheet 4
  • ncomms10767-s3.xls, sheet 1
  • ncomms10767-s4.xls, sheet 1
View BVdb publication page