DNMT3A c.1154del ;(p.P385Rfs*22)

Variant ID: 2-25469613-CG-C

NM_022552.4(DNMT3A):c.1154del;(p.P385Rfs*22)

This variant was identified in 9 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: 1154delC; Pro385Argfs*22
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



NPM1 exon 5 mutations in acute myeloid leukemia: Implications in diagnosis and minimal residual monitoring.

Ejhaem
Wang, Peng P; Segal, Jeremy J; Drazer, Michael W MW; Venkataraman, Girish G; Arber, Daniel A DA; Gurbuxani, Sandeep S
Publication Date: 2022-08

Variant appearance in text: DNMT3A: P385Rfs*22
PubMed Link: 36051025
Variant Present in the following documents:
  • Main text
  • JHA2-3-962.pdf
View BVdb publication page



Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series.

Frontiers In Immunology
Martin de Frémont, Grégoire G; Hirsch, Pierre P; Gimenez de Mestral, Santiago S; Moguelet, Philippe P; Ditchi, Yoan Y; Emile, Jean-François JF; Senet, Patricia P; Georgin-Lavialle, Sophie S; Hanslik, Thomas T; Maurier, François F; Adedjouma, Amir A; Abisror, Noémie N; Mahevas, Thibault T; Malard, Florent F; Adès, Lionel L; Fenaux, Pierre P; Fain, Olivier O; Chasset, François F; Mekinian, Arsène A
Publication Date: 2021

Variant appearance in text: DNMT3A: 1154delC; Pro385Argfs*22
PubMed Link: 34671345
Variant Present in the following documents:
  • Main text
  • fimmu-12-715053.pdf
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: DNMT3A: 1154delC; P385Rfs*22
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
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: 1154delC; P385fs
PubMed Link: 33567811
Variant Present in the following documents:
  • 2020_265991_DOBSON_SUPPL.pdf
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: 1154delC; P385Rfs*22
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
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: DNMT3A: 1154delC; P385fs
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM6_ESM.xls, sheet 1
View BVdb publication page



Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas.

Leukemia
Kataoka, Keisuke K; Miyoshi, Hiroaki H; Sakata, Seiji S; Dobashi, Akito A; Couronné, Lucile L; Kogure, Yasunori Y; Sato, Yasuharu Y; Nishida, Kenji K; Gion, Yuka Y; Shiraishi, Yuichi Y; Tanaka, Hiroko H; Chiba, Kenichi K; Watatani, Yosaku Y; Kakiuchi, Nobuyuki N; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Makishima, Hideki H; Sanada, Masashi M; Onozawa, Masahiro M; Teshima, Takanori T; Yoshiki, Yumiko Y; Ishida, Tadao T; Suzuki, Kenshi K; Shimada, Kazuyuki K; Tomita, Akihiro A; Kato, Motohiro M; Ota, Yasunori Y; Izutsu, Koji K; Demachi-Okamura, Ayako A; Akatsuka, Yoshiki Y; Miyano, Satoru S; Yoshino, Tadashi T; Gaulard, Philippe P; Hermine, Olivier O; Takeuchi, Kengo K; Ohshima, Koichi K; Ogawa, Seishi S
Publication Date: 2019-07

Variant appearance in text: DNMT3A: 1154delC; P385fs
PubMed Link: 30683910
Variant Present in the following documents:
  • 41375_2019_380_MOESM2_ESM.xlsx, sheet 9
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: 1153delC; Pro385fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
  • bty518_supplementary_data_s4.xlsx, sheet 2
View BVdb publication page