TET2 c.4178C>T ;(p.T1393I)

Variant ID: 4-106190900-C-T

NM_001127208.2(TET2):c.4178C>T;(p.T1393I)

This variant was identified in 12 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: T1393I
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: T1393I
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
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: T1393I
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
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: T1393I
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Journal Of Cancer
Oh, Joowon J; Kim, Yu Ri YR; Kim, Yoonjung Y; Kim, Boyeon B; Park, Kyung Sun KS; Nam, Seong-Hyeuk SH; Lee, Kyung-A KA
Publication Date: 2021

Variant appearance in text: TET2: 4178C>T; Thr1393Ile
PubMed Link: 34093829
Variant Present in the following documents:
  • jcav12p4288s2.xlsx, sheet 3
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: 4178C>T; Thr1393Ile
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



The sympathomimetic agonist mirabegron did not lower JAK2-V617F allele burden, but restored nestin-positive cells and reduced reticulin fibrosis in patients with myeloproliferative neoplasms: results of phase II study SAKK 33/14.

Haematologica
Drexler, Beatrice B; Passweg, Jakob R JR; Tzankov, Alexandar A; Bigler, Martin M; Theocharides, Alexandre Pa AP; Cantoni, Nathan N; Keller, Peter P; Stussi, Georg G; Ruefer, Axel A; Benz, Rudolf R; Favre, Geneviève G; Lundberg, Pontus P; Nienhold, Ronny R; Fuhrer, Andrea A; Biaggi, Christine C; Manz, Markus G MG; Bargetzi, Mario M; Mendez-Ferrer, Simon S; Skoda, Radek C RC; ,
Publication Date: 2019-04

Variant appearance in text: TET2: T1393I
PubMed Link: 30409796
Variant Present in the following documents:
  • 1040710.pdf
View BVdb publication page



High prevalence of focal and multi-focal somatic genetic variants in the human brain.

Nature Communications
Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Walker, Lauren L; van den Ameele, Jelle J; Coxhead, Jon J; Wilson, Ian I; Bashton, Matthew M; Beck, Jon J; West, John J; Chen, Richard R; Haudenschild, Christian C; Bartha, Gabor G; Luo, Shujun S; Morris, Chris M CM; Jones, Nick S NS; Attems, Johannes J; Chinnery, Patrick F PF
Publication Date: 2018-10-15

Variant appearance in text: TET2: T1393I
PubMed Link: 30323172
Variant Present in the following documents:
  • 41467_2018_6331_MOESM1_ESM.pdf
  • 41467_2018_6331_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: TET2: T1393I
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.xlsx, sheet 2
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: 4178C>T; Thr1393Ile
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 6
View BVdb publication page



Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr
Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2018-01-09

Variant appearance in text: TET2: 4178C>T; Thr1393Ile
PubMed Link: 29316957
Variant Present in the following documents:
  • 13058_2017_929_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial.

Oncotarget
Renneville, Aline A; Abdelali, Raouf Ben RB; Chevret, Sylvie S; Nibourel, Olivier O; Cheok, Meyling M; Pautas, Cécile C; Duléry, Rémy R; Boyer, Thomas T; Cayuela, Jean-Michel JM; Hayette, Sandrine S; Raffoux, Emmanuel E; Farhat, Hassan H; Boissel, Nicolas N; Terre, Christine C; Dombret, Hervé H; Castaigne, Sylvie S; Preudhomme, Claude C
Publication Date: 2014-02-28

Variant appearance in text: TET2: 4178C>T; T1393I
PubMed Link: 24659740
Variant Present in the following documents:
  • oncotarget-05-916-s001.pdf
View BVdb publication page