TET2 c.3116C>T ;(p.S1039L)

Variant ID: 4-106158215-C-T

NM_001127208.2(TET2):c.3116C>T;(p.S1039L)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Primary central nervous system CD20-negative diffuse large B-cell lymphoma: a case report.

Bmc Neurology
Luo, Shuai S; Huang, Xiang X; Li, Yao Y; Wang, Jinjing J
Publication Date: 2022-12-29

Variant appearance in text: TET2: 3116C>T; Ser1039Leu
PubMed Link: 36581860
Variant Present in the following documents:
  • Main text
  • 12883_2022_Article_3031.pdf
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: TET2: S1039L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension.

Cjc Open
Hiraide, Takahiro T; Suzuki, Hisato H; Shinya, Yoshiki Y; Momoi, Mizuki M; Inami, Takumi T; Katsumata, Yoshinori Y; Fukuda, Keiichi K; Kosaki, Kenjiro K; Kataoka, Masaharu M
Publication Date: 2022-04

Variant appearance in text: TET2: 3116C>T; Ser1039Leu
PubMed Link: 35495859
Variant Present in the following documents:
  • Main text
  • main.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: 3116C>T; S1039L; rs111678678
PubMed Link: 35279121
Variant Present in the following documents:
  • Main text
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
  • 12885_2022_Article_9347.pdf
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: TET2: 3116C>T; Ser1039Leu
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Integrative Analysis of Gene Expression Data by RNA Sequencing for Differential Diagnosis of Acute Leukemia: Potential Application of Machine Learning.

Frontiers In Oncology
Lee, Jaewoong J; Cho, Sungmin S; Hong, Seong-Eui SE; Kang, Dain D; Choi, Hayoung H; Lee, Jong-Mi JM; Yoon, Jae-Ho JH; Cho, Byung-Sik BS; Lee, Seok S; Kim, Hee-Je HJ; Kim, Myungshin M; Kim, Yonggoo Y
Publication Date: 2021

Variant appearance in text: TET2: 3116C>T; S1039L
PubMed Link: 34497767
Variant Present in the following documents:
  • Main text
View BVdb publication page



TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.

Peerj
Shaikh, Abdul Rehman Khalil ARK; Ujjan, Ikram I; Irfan, Muhammad M; Naz, Arshi A; Shamsi, Tahir T; Khan, Muhammad Tariq Masood MTM; Shakeel, Muhammad M
Publication Date: 2021

Variant appearance in text: TET2: S1039L; rs111678678
PubMed Link: 33643703
Variant Present in the following documents:
  • Main text
  • peerj-09-10678.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: TET2: S1039L; rs111678678
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019

Variant appearance in text: TET2: S1039L; rs111678678
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx, sheet 1
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 3116C>T; Ser1039Leu; rs111678678
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing.

Molecular Medicine Reports
Li, Ying Y; Lv, Xiao X; Ge, Xueling X; Yuan, Dai D; Ding, Mei M; Zhen, Changqing C; Zhao, Wenbo W; Liu, Xin X; Wang, Xianghua X; Xu, Hongzhi H; Li, Ying Y; Wang, Xin X
Publication Date: 2019-05

Variant appearance in text: TET2: S1039L
PubMed Link: 30942411
Variant Present in the following documents:
  • Main text
  • mmr-19-05-4147.pdf
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: TET2: S1039L
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 5
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: 3116C>T; S1039L
PubMed Link: 27043212
Variant Present in the following documents:
  • pone.0152851.s001.xlsx, sheet 4
View BVdb publication page



Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

Leukemia
Kutny, M A MA; Alonzo, T A TA; Gamazon, E R ER; Gerbing, R B RB; Geraghty, D D; Lange, B B; Heerema, N A NA; Sung, L L; Aplenc, R R; Franklin, J J; Raimondi, S C SC; Hirsch, B A BA; Konkashbaev, A A; Cox, N J NJ; Onel, K K; Gamis, A S AS; Meshinchi, S S
Publication Date: 2015-12

Variant appearance in text: rs111678678
PubMed Link: 26126966
Variant Present in the following documents:
  • NIHMS692629-supplement-1.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: TET2: S1039L; rs111678678
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations.

Haematologica
Lin, Tung-Liang TL; Nagata, Yasunobu Y; Kao, Hsiao-Wen HW; Sanada, Masashi M; Okuno, Yusuke Y; Huang, Chein-Fuang CF; Liang, Der-Cherng DC; Kuo, Ming-Chung MC; Lai, Chang-Liang CL; Lee, En-Hui EH; Shih, Yu-Shu YS; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Lin, Tung-Huei TH; Wu, Jin-Hou JH; Miyano, Satoru S; Ogawa, Seishi S; Shih, Lee-Yung LY
Publication Date: 2014-01

Variant appearance in text: TET2: S1039L
PubMed Link: 23996483
Variant Present in the following documents:
  • Main text
View BVdb publication page