DNMT3A c.1238del ;(p.G413Afs*238)

Variant ID: 2-25469529-GC-G

NM_022552.4(DNMT3A):c.1238del;(p.G413Afs*238)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: G413Afs*238
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
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: 1238delG; G413Afs*238
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: DNMT3A: 1238delG
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: DNMT3A: 1238delG; G413fs
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.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: DNMT3A: 1238delG; Gly413fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
  • bty518_supplementary_data_s5.xlsx, sheet 8
  • bty518_supplementary_data_s6.xlsx, sheet 8
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page



Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Nature Medicine
Li, Sheng S; Garrett-Bakelman, Francine E FE; Chung, Stephen S SS; Sanders, Mathijs A MA; Hricik, Todd T; Rapaport, Franck F; Patel, Jay J; Dillon, Richard R; Vijay, Priyanka P; Brown, Anna L AL; Perl, Alexander E AE; Cannon, Joy J; Bullinger, Lars L; Luger, Selina S; Becker, Michael M; Lewis, Ian D ID; To, Luen Bik LB; Delwel, Ruud R; Löwenberg, Bob B; Döhner, Hartmut H; Döhner, Konstanze K; Guzman, Monica L ML; Hassane, Duane C DC; Roboz, Gail J GJ; Grimwade, David D; Valk, Peter J M PJ; D'Andrea, Richard J RJ; Carroll, Martin M; Park, Christopher Y CY; Neuberg, Donna D; Levine, Ross R; Melnick, Ari M AM; Mason, Christopher E CE
Publication Date: 2016-07

Variant appearance in text: DNMT3A: 1238delG; G413fs
PubMed Link: 27322744
Variant Present in the following documents:
  • NIHMS786454-supplement-7.xlsx, sheet 1
View BVdb publication page