TET2 c.1285G>A ;(p.G429R)

Variant ID: 4-106156384-G-A

NM_001127208.2(TET2):c.1285G>A;(p.G429R)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: G429R
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
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: G429R
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: TET2: 1285G>A; rs201642693
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
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: 1285G>A; G429R; rs201642693
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: TET2: G429R
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
View BVdb publication page



Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ
Publication Date: 2021-12-07

Variant appearance in text: TET2: G429R
PubMed Link: 34845035
Variant Present in the following documents:
  • pnas.2116427118.sd02.xlsx, sheet 1
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: TET2: 1285G>A; Gly429Arg; rs201642693
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: TET2: 1285G>A; Gly429Arg; rs201642693
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research
Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC
Publication Date: 2021-05

Variant appearance in text: TET2: Gly429Arg
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TET2: 1285G>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: rs201642693
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: TET2: 1285G>A; G429R; rs201642693
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
View BVdb publication page



[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX
Publication Date: 2019-08-14

Variant appearance in text: TET2: 1285G>A
PubMed Link: 31495132
Variant Present in the following documents:
  • Main text
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: 1285G>A; Gly429Arg; rs201642693
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: TET2: 1285G>A; Gly429Arg
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
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: 1285G>A; Gly429Arg; rs201642693
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 3
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: 1285G>A; Gly429Arg; rs201642693
PubMed Link: 29316957
Variant Present in the following documents:
  • 13058_2017_929_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TET2: G429R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: G429R; rs201642693
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal
Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N
Publication Date: 2013

Variant appearance in text: TET2: G429R
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page