TET2 c.5543C>A ;(p.S1848*)

Variant ID: 4-106197210-C-A

NM_001127208.2(TET2):c.5543C>A;(p.S1848*)

This variant was identified in 8 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: S1848*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: TET2: S1848*
PubMed Link: 34855941
Variant Present in the following documents:
  • bloodBLD2021013531-suppl1.pdf
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
View BVdb publication page



Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science
Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K
Publication Date: 2021-03

Variant appearance in text: TET2: S1848*
PubMed Link: 33426772
Variant Present in the following documents:
  • CAS-112-1300-s002.xlsx, sheet 4
View BVdb publication page



Clonal competition within complex evolutionary hierarchies shapes AML over time.

Nature Communications
Sandén, Carl C; Lilljebjörn, Henrik H; Orsmark Pietras, Christina C; Henningsson, Rasmus R; Saba, Karim H KH; Landberg, Niklas N; Thorsson, Hanna H; von Palffy, Sofia S; Peña-Martinez, Pablo P; Högberg, Carl C; Rissler, Marianne M; Gisselsson, David D; Lazarevic, Vladimir V; Juliusson, Gunnar G; Ågerstam, Helena H; Fioretos, Thoas T
Publication Date: 2020-02-05

Variant appearance in text: TET2: S1848X
PubMed Link: 32024830
Variant Present in the following documents:
  • 41467_2019_14106_MOESM29_ESM.xlsx, sheet 1
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: TET2: S1848X
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clonal evolution in myelodysplastic syndromes.

Nature Communications
da Silva-Coelho, Pedro P; Kroeze, Leonie I LI; Yoshida, Kenichi K; Koorenhof-Scheele, Theresia N TN; Knops, Ruth R; van de Locht, Louis T LT; de Graaf, Aniek O AO; Massop, Marion M; Sandmann, Sarah S; Dugas, Martin M; Stevens-Kroef, Marian J MJ; Cermak, Jaroslav J; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Miyano, Satoru S; de Witte, Theo T; Blijlevens, Nicole M A NMA; Muus, Petra P; Huls, Gerwin G; van der Reijden, Bert A BA; Ogawa, Seishi S; Jansen, Joop H JH
Publication Date: 2017-04-21

Variant appearance in text: TET2: S1848X
PubMed Link: 28429724
Variant Present in the following documents:
  • ncomms15099-s2.xlsx, sheet 1
View BVdb publication page



Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Blood Cancer Journal
Angona, A A; Fernández-Rodríguez, C C; Alvarez-Larrán, A A; Camacho, L L; Longarón, R R; Torres, E E; Pairet, S S; Besses, C C; Bellosillo, B B
Publication Date: 2016-08-26

Variant appearance in text: TET2: Ser1848Ter
PubMed Link: 27564461
Variant Present in the following documents:
  • Main text
  • bcj201675a.pdf
View BVdb publication page



Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.

Diagnostic Pathology
Au, Chun Hang CH; Wa, Anna A; Ho, Dona N DN; Chan, Tsun Leung TL; Ma, Edmond S K ES
Publication Date: 2016-01-22

Variant appearance in text: TET2: S1848*
PubMed Link: 26796102
Variant Present in the following documents:
  • 13000_2016_Article_456.pdf
View BVdb publication page