DNMT3A c.2707G>C ;(p.A903P)

Variant ID: 2-25457180-C-G

NM_022552.4(DNMT3A):c.2707G>C;(p.A903P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19.

Blood
Miller, Peter G PG; Fell, Geoffrey G GG; Foy, Brody H BH; Scherer, Allison K AK; Gibson, Christopher J CJ; Sperling, Adam S AS; Burugula, Bala B BB; Nakao, Tetsushi T; Uddin, Md M MM; Warren, Hailey H; Bry, Lynn L; Pozdnyakova, Olga O; Frigault, Matthew J MJ; Bick, Alex G AG; Neuberg, Donna D; Higgins, John M JM; Mansour, Michael K MK; Natarajan, Pradeep P; Kim, Annette S AS; Kitzman, Jacob O JO; Ebert, Benjamin L BL
Publication Date: 2022-11-03

Variant appearance in text: DNMT3A: A903P
PubMed Link: 36096050
Variant Present in the following documents:
  • mmc2.xlsx, sheet 7
View BVdb publication page



Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.

Haematologica
Tovy, Ayala A; Rosas, Carina C; Gaikwad, Amos S AS; Medrano, Geraldo G; Zhang, Linda L; Reyes, Jaime M JM; Huang, Yung-Hsin YH; Arakawa, Tastuhiko T; Kurtz, Kristen K; Conneely, Shannon E SE; Guzman, Anna G AG; Aguilar, Rogelio R; Gao, Anne A; Chen, Chun-Wei CW; Kim, Jean J JJ; Carter, Melissa T MT; Lasa-Aranzasti, Amaia A; Valenzuela, Irene I; Van Maldergem, Lionel L; Brunetti, Lorenzo L; Hicks, M John MJ; Marcogliese, Andrea N AN; Goodell, Margaret A MA; Rau, Rachel E RE
Publication Date: 2022-04-01

Variant appearance in text: DNMT3A: A903P
PubMed Link: 34092059
Variant Present in the following documents:
  • 2021_278990_TOVY_SUPPL.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: DNMT3A: A903P
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Novel L-nucleoside analogue, 5-fluorotroxacitabine, displays potent efficacy against acute myeloid leukemia.

Haematologica
Bankar, Aniket A; Siriwardena, Thirushi Piyumika TP; Rizoska, Biljana B; Rydergård, Christina C; Kylefjord, Helen H; Rraklli, Vilma V; Eneroth, Anders A; Pinho, Pedro P; Norin, Stefan S; Bylund, Johan J; Moses, Sara S; Bethell, Richard R; Kavanagh, Simon S; Maclean, Neil N; Gronda, Marcela M; Wang, Xiaoming X; Hurren, Rose R; Minden, Mark D MD; Targett-Adams, Paul P; Schimmer, Aaron D AD; Albertella, Mark M
Publication Date: 2021-02-01

Variant appearance in text: DNMT3A: 2707G>C; Ala903Pro
PubMed Link: 31857370
Variant Present in the following documents:
  • 2019-226795-BANKAR_SUPPL.pdf
View BVdb publication page



High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11

Variant appearance in text: DNMT3A: 2707G>C; Ala903Pro
PubMed Link: 29556019
Variant Present in the following documents:
  • 41375_2018_82_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page