DNMT3A c.2580G>A ;(p.W860*)

Variant ID: 2-25458593-C-T

NM_022552.4(DNMT3A):c.2580G>A;(p.W860*)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Increased prevalence of clonal hematopoiesis of indeterminate potential in hospitalized patients with COVID-19.

Frontiers In Immunology
Schenz, Judith J; Rump, Katharina K; Siegler, Benedikt Hermann BH; Hemmerling, Inga I; Rahmel, Tim T; Thon, Jan N JN; Nowak, Hartmuth H; Fischer, Dania D; Hafner, Anna A; Tichy, Lucas L; Bomans, Katharina K; Meggendorfer, Manja M; Koos, Björn B; von Groote, Thilo T; Zarbock, Alexander A; Fiedler, Mascha O MO; Zemva, Johanna J; Larmann, Jan J; Merle, Uta U; Adamzik, Michael M; Müller-Tidow, Carsten C; Haferlach, Torsten T; Leuschner, Florian F; Weigand, Markus A MA
Publication Date: 2022

Variant appearance in text: DNMT3A: 2580G>A; Trp860*
PubMed Link: 36311800
Variant Present in the following documents:
  • DataSheet_1.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: W860*
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: W860X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Immunity & Ageing : I & A
Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO
Publication Date: 2022-05-24

Variant appearance in text: DNMT3A: W860X
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clonal hematopoiesis of indeterminate potential-related epigenetic age acceleration correlates with clonal hematopoiesis of indeterminate potential clone size in patients with high morbidity.

Haematologica
Feldkamp, Jasper David JD; Vetter, Valentin Max VM; Arends, Christopher Maximilian CM; Lang, Tonio Johannes Lukas TJL; Bullinger, Lars L; Damm, Frederik F; Demuth, Ilja I; Frick, Mareike M
Publication Date: 2022-07-01

Variant appearance in text: DNMT3A: 2580G>A; Trp860*
PubMed Link: 35236052
Variant Present in the following documents:
  • 2021_280021_FELDKAMP_SUPPL.pdf
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: W860*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Clonal hematopoiesis is associated with increased risk of progression of asymptomatic Waldenström macroglobulinemia.

Blood Advances
Tahri, Sabrin S; Mouhieddine, Tarek H TH; Redd, Robert R; Lampe, Luisa L; Nilsson, Katarina I KI; El-Khoury, Habib H; Su, Nang Kham NK; Nassar, Amin H AH; Adib, Elio E; Bindra, Govind G; Abou Alaiwi, Sarah S; Trippa, Lorenzo L; Steensma, David P DP; Castillo, Jorge J JJ; Treon, Steven P SP; Ghobrial, Irene M IM; Sperling, Adam S AS
Publication Date: 2022-04-12

Variant appearance in text: DNMT3A: 2580G>A; W860*
PubMed Link: 34847227
Variant Present in the following documents:
  • advancesADV2021004926-suppl1.pdf
View BVdb publication page



Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.

Aging Cell
Nachun, Daniel D; Lu, Ake T AT; Bick, Alexander G AG; Natarajan, Pradeep P; Weinstock, Joshua J; Szeto, Mindy D MD; Kathiresan, Sekar S; Abecasis, Goncalo G; Taylor, Kent D KD; Guo, Xiuqing X; Tracy, Russ R; Durda, Peter P; Liu, Yongmei Y; Johnson, Craig C; Rich, Stephen S SS; Van Den Berg, David D; Laurie, Cecilia C; Blackwell, Tom T; Papanicolaou, George J GJ; Correa, Adolfo A; Raffield, Laura M LM; Johnson, Andrew D AD; Murabito, Joanne J; Manson, JoAnn E JE; Desai, Pinkal P; Kooperberg, Charles C; Assimes, Themistocles L TL; Levy, Daniel D; Rotter, Jerome I JI; Reiner, Alex P AP; Whitsel, Eric A EA; Wilson, James G JG; Horvath, Steve S; Jaiswal, Siddhartha S; ,
Publication Date: 2021-06

Variant appearance in text: DNMT3A: W860X
PubMed Link: 34050697
Variant Present in the following documents:
  • ACEL-20-e13366-s001.xlsx, sheet 1
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: DNMT3A: W860*
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 6
View BVdb publication page



Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: DNMT3A: 2580G>A; Trp860Ter; rs376830288
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S9.xlsx, sheet 2
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: W860X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Nature Communications
Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM
Publication Date: 2020-01-23

Variant appearance in text: DNMT3A: Trp860Ter
PubMed Link: 31974348
Variant Present in the following documents:
  • 41467_2019_14079_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DNMT3A: W860*; rs376830288
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-12.xlsx, sheet 1
View BVdb publication page