DNMT3A c.989G>A ;(p.W330*)

Variant ID: 2-25470485-C-T

NM_022552.4(DNMT3A):c.989G>A;(p.W330*)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.

Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18

Variant appearance in text: DNMT3A: 989G>A; Trp330Ter
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations.

Annals Of Laboratory Medicine
Moon, Inki I; Kong, Min Gyu MG; Ji, Young Sok YS; Kim, Se Hyung SH; Park, Seong Kyu SK; Suh, Jon J; Jang, Mi-Ae MA
Publication Date: 2023-03-01

Variant appearance in text: DNMT3A: 989G>A; Trp330Ter
PubMed Link: 36281508
Variant Present in the following documents:
  • alm-43-2-145-supple2.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: DNMT3A: W330X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Publication Date: 2022-10-06

Variant appearance in text: DNMT3A: W330*
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
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: DNMT3A: W330*
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: DNMT3A: W330X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM1_ESM.pdf
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: DNMT3A: W330*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Human Genomics
Avramović, Vladimir V; Frederiksen, Simona Denise SD; Brkić, Marjana M; Tarailo-Graovac, Maja M
Publication Date: 2021-12-14

Variant appearance in text: DNMT3A: W330*
PubMed Link: 34906245
Variant Present in the following documents:
  • 40246_2021_371_MOESM1_ESM.xlsx, sheet 5
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: DNMT3A: W330*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Mutation analysis links angioimmunoblastic T-cell lymphoma to clonal hematopoiesis and smoking.

Elife
Cheng, Shuhua S; Zhang, Wei W; Inghirami, Giorgio G; Tam, Wayne W
Publication Date: 2021-09-29

Variant appearance in text: DNMT3A: W330*
PubMed Link: 34581268
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis.

Haematologica
Dobson, Rachel R; Du, Peter Y PY; Rásó-Barnett, Lívia L; Yao, Wen-Qing WQ; Chen, Zi Z; Casa, Calogero C; Ei-Daly, Hesham H; Farkas, Lorant L; Soilleux, Elizabeth E; Wright, Penny P; Grant, John W JW; Rodriguez-Justo, Manuel M; Follows, George A GA; Rashed, Hala H; Fabre, Margarete M; Baxter, E Joanna EJ; Vassiliou, George G; Wotherspoon, Andrew A; Attygalle, Ayoma D AD; Liu, Hongxiang H; Du, Ming-Qing MQ
Publication Date: 2022-02-01

Variant appearance in text: DNMT3A: W330X
PubMed Link: 33567811
Variant Present in the following documents:
  • 2020_265991_DOBSON_SUPPL.pdf
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: DNMT3A: 989G>A; W330*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: DNMT3A: 989G>A; W330X
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



DNA methyltransferases in hematological malignancies.

Journal Of Genetics And Genomics = Yi Chuan Xue Bao
Hoang, Nguyet-Minh NM; Rui, Lixin L
Publication Date: 2020-07-20

Variant appearance in text: DNMT3A: W330*
PubMed Link: 32994141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Haematologica
Caprioli, Chiara C; Lussana, Federico F; Salmoiraghi, Silvia S; Cavagna, Roberta R; Buklijas, Ksenija K; Elidi, Lara L; Zanghi', Pamela P; Michelato, Anna A; Delaini, Federica F; Oldani, Elena E; Intermesoli, Tamara T; Grassi, Anna A; Gianfaldoni, Giacomo G; Mannelli, Francesco F; Ferrero, Dario D; Audisio, Ernesta E; Terruzzi, Elisabetta E; De Paoli, Lorella L; Cattaneo, Chiara C; Borlenghi, Erika E; Cavattoni, Irene I; Tajana, Monica M; Scattolin, Anna Maria AM; Mattei, Daniele D; Corradini, Paolo P; Campiotti, Leonardo L; Ciceri, Fabio F; Bernardi, Massimo M; Todisco, Elisabetta E; Cortelezzi, Agostino A; Falini, Brunangelo B; Pavoni, Chiara C; Bassan, Renato R; Spinelli, Orietta O; Rambaldi, Alessandro A
Publication Date: 2021-10-01

Variant appearance in text: DNMT3A: 989G>A; Trp330Ter
PubMed Link: 32855275
Variant Present in the following documents:
  • 2020_252825_CAPRIOLI_SUPPL.pdf
View BVdb publication page



Association between Clonal Hematopoiesis and Late Nonrelapse Mortality after Autologous Hematopoietic Cell Transplantation.

Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation
Slavin, Thomas P TP; Teh, Jennifer Berano JB; Weitzel, Jeffrey N JN; Peng, Kelly K; Wong, F Lennie FL; Qin, Hanjun H; Wang, Jinhui J; Wu, Xiewei X; Mei, Matthew M; Pillai, Raju R; Wang, Yafan Y; Tsang, Kevin Karwing KK; Pozhitkov, Alex A; Krishnan, Amrita A; Forman, Stephen J SJ; Armenian, Saro H SH
Publication Date: 2019-12

Variant appearance in text: DNMT3A: 989G>A; W330*
PubMed Link: 31445185
Variant Present in the following documents:
  • Main text
  • nihms-1581006.pdf
View BVdb publication page



GATA2 zinc finger 1 mutations are associated with distinct clinico-biological features and outcomes different from GATA2 zinc finger 2 mutations in adult acute myeloid leukemia.

Blood Cancer Journal
Tien, Feng-Ming FM; Hou, Hsin-An HA; Tsai, Cheng-Hong CH; Tang, Jih-Luh JL; Chiu, Yu-Chiao YC; Chen, Chien-Yuan CY; Kuo, Yuan-Yeh YY; Tseng, Mei-Hsuan MH; Peng, Yen-Ling YL; Liu, Ming-Chih MC; Liu, Chia-Wen CW; Liao, Xiu-Wen XW; Lin, Liang-In LI; Lin, Chien-Ting CT; Wu, Shang-Ju SJ; Ko, Bor-Sheng BS; Hsu, Szu-Chun SC; Huang, Shang-Yi SY; Yao, Ming M; Chou, Wen-Chien WC; Tien, Hwei-Fang HF
Publication Date: 2018-08-31

Variant appearance in text: DNMT3A: 989G>A
PubMed Link: 30190467
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Nature Communications
Wong, Terrence N TN; Miller, Christopher A CA; Jotte, Matthew R M MRM; Bagegni, Nusayba N; Baty, Jack D JD; Schmidt, Amy P AP; Cashen, Amanda F AF; Duncavage, Eric J EJ; Helton, Nichole M NM; Fiala, Mark M; Fulton, Robert S RS; Heath, Sharon E SE; Janke, Megan M; Luber, Kierstin K; Westervelt, Peter P; Vij, Ravi R; DiPersio, John F JF; Welch, John S JS; Graubert, Timothy A TA; Walter, Matthew J MJ; Ley, Timothy J TJ; Link, Daniel C DC
Publication Date: 2018-01-31

Variant appearance in text: DNMT3A: W330*
PubMed Link: 29386642
Variant Present in the following documents:
  • 41467_2018_2858_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_2858_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

The Oncologist
Hirshfield, Kim M KM; Tolkunov, Denis D; Zhong, Hua H; Ali, Siraj M SM; Stein, Mark N MN; Murphy, Susan S; Vig, Hetal H; Vazquez, Alexei A; Glod, John J; Moss, Rebecca A RA; Belyi, Vladimir V; Chan, Chang S CS; Chen, Suzie S; Goodell, Lauri L; Foran, David D; Yelensky, Roman R; Palma, Norma A NA; Sun, James X JX; Miller, Vincent A VA; Stephens, Philip J PJ; Ross, Jeffrey S JS; Kaufman, Howard H; Poplin, Elizabeth E; Mehnert, Janice J; Tan, Antoinette R AR; Bertino, Joseph R JR; Aisner, Joseph J; DiPaola, Robert S RS; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S
Publication Date: 2016-11

Variant appearance in text: DNMT3A: W330*
PubMed Link: 27566247
Variant Present in the following documents:
  • supp_the2016-0049_Supplemental_Tables.pdf
View BVdb publication page



Detection of high-frequency and novel DNMT3A mutations in acute myeloid leukemia by high-resolution melting curve analysis.

The Journal Of Molecular Diagnostics : Jmd
Singh, Rajesh R RR; Bains, Ashish A; Patel, Keyur P KP; Rahimi, Hamed H; Barkoh, Bedia A BA; Paladugu, Abhaya A; Bisrat, Tigist T; Ravandi-Kashani, Farhad F; Cortes, Jorge E JE; Kantarjian, Hagop M HM; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R
Publication Date: 2012-07

Variant appearance in text: N/A
PubMed Link: 22642896
Variant Present in the following documents:
View BVdb publication page