TET2 c.1471C>T ;(p.Q491*)

Variant ID: 4-106156570-C-T

NM_001127208.2(TET2):c.1471C>T;(p.Q491*)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: TET2: 1471C>T; Q491*
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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: Q491*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: TET2: 1471C>T; Q491*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: TET2: 1471C>T; Gln491*
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
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: Q491X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
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: Q491*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series.

Frontiers In Immunology
Martin de Frémont, Grégoire G; Hirsch, Pierre P; Gimenez de Mestral, Santiago S; Moguelet, Philippe P; Ditchi, Yoan Y; Emile, Jean-François JF; Senet, Patricia P; Georgin-Lavialle, Sophie S; Hanslik, Thomas T; Maurier, François F; Adedjouma, Amir A; Abisror, Noémie N; Mahevas, Thibault T; Malard, Florent F; Adès, Lionel L; Fenaux, Pierre P; Fain, Olivier O; Chasset, François F; Mekinian, Arsène A
Publication Date: 2021

Variant appearance in text: TET2: 1471C>T; Gln491*
PubMed Link: 34671345
Variant Present in the following documents:
  • fimmu-12-715053.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: Q491X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape

Haematologica
Zalmaï, Loria L; Viailly, Pierre-Julien PJ; Biichle, Sabeha S; Cheok, Meyling M; Soret, Lou L; Angelot-Delettre, Fanny F; Petrella, Tony T; Collonge-Rame, Marie-Agnès MA; Seilles, Estelle E; Geffroy, Sandrine S; Deconinck, Eric E; Daguindau, Etienne E; Bouyer, Sabrina S; Dindinaud, Elodie E; Baunin, Victor V; Le Garff-Tavernier, Magali M; Roos-Weil, Damien D; Wagner-Ballon, Orianne O; Salaun, Véronique V; Feuillard, Jean J; Brun, Sophie S; Drenou, Bernard B; Mayeur-Rousse, Caroline C; Okamba, Patricia P; Dorvaux, Véronique V; Tichionni, Michel M; Rose, Johann J; Rubio, Marie Thérèse MT; Jacob, Marie Christine MC; Raggueneau, Victoria V; Preudhomme, Claude C; Saas, Philippe P; Ferrand, Christophe C; Adotevi, Olivier O; Roumier, Christophe C; Jardin, Fabrice F; Garnache-Ottou, Francine F; Renosi, Florian F
Publication Date: 2021-12-01

Variant appearance in text: TET2: Q491X
PubMed Link: 33054115
Variant Present in the following documents:
  • 2020_253740_ZALMAI_SUPPL.pdf
View BVdb publication page



Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape

Haematologica
Zalmaï, Loria L; Viailly, Pierre-Julien PJ; Biichle, Sabeha S; Cheok, Meyling M; Soret, Lou L; Angelot-Delettre, Fanny F; Petrella, Tony T; Collonge-Rame, Marie-Agnès MA; Seilles, Estelle E; Geffroy, Sandrine S; Deconinck, Eric E; Daguindau, Etienne E; Bouyer, Sabrina S; Dindinaud, Elodie E; Baunin, Victor V; Le Garff-Tavernier, Magali M; Roos-Weil, Damien D; Wagner-Ballon, Orianne O; Salaun, Véronique V; Feuillard, Jean J; Brun, Sophie S; Drenou, Bernard B; Mayeur-Rousse, Caroline C; Okamba, Patricia P; Dorvaux, Véronique V; Tichionni, Michel M; Rose, Johann J; Rubio, Marie Thérèse MT; Jacob, Marie Christine MC; Raggueneau, Victoria V; Preudhomme, Claude C; Saas, Philippe P; Ferrand, Christophe C; Adotevi, Olivier O; Roumier, Christophe C; Jardin, Fabrice F; Garnache-Ottou, Francine F; Renosi, Florian F
Publication Date: 2021-12-01

Variant appearance in text: TET2: Q491X
PubMed Link: 33054115
Variant Present in the following documents:
  • 2020_253740_ZALMAI_SUPPL.pdf
View BVdb publication page



Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Nature Communications
Kaasinen, Eevi E; Kuismin, Outi O; Rajamäki, Kristiina K; Ristolainen, Heikki H; Aavikko, Mervi M; Kondelin, Johanna J; Saarinen, Silva S; Berta, Davide G DG; Katainen, Riku R; Hirvonen, Elina A M EAM; Karhu, Auli A; Taira, Aurora A; Tanskanen, Tomas T; Alkodsi, Amjad A; Taipale, Minna M; Morgunova, Ekaterina E; Franssila, Kaarle K; Lehtonen, Rainer R; Mäkinen, Markus M; Aittomäki, Kristiina K; Palotie, Aarno A; Kurki, Mitja I MI; Pietiläinen, Olli O; Hilpert, Morgane M; Saarentaus, Elmo E; Niinimäki, Jaakko J; Junttila, Juhani J; Kaikkonen, Kari K; Vahteristo, Pia P; Skoda, Radek C RC; Seppänen, Mikko R J MRJ; Eklund, Kari K KK; Taipale, Jussi J; Kilpivaara, Outi O; Aaltonen, Lauri A LA
Publication Date: 2019-03-19

Variant appearance in text: TET2: 1471C>T; Gln491Ter
PubMed Link: 30890702
Variant Present in the following documents:
  • Main text
  • 41467_2019_9198_MOESM1_ESM.pdf
  • 41467_2019_Article_9198.pdf
View BVdb publication page