DNMT3A c.2447A>T ;(p.Q816L)

Variant ID: 2-25459836-T-A

NM_022552.4(DNMT3A):c.2447A>T;(p.Q816L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


CNL and aCML should be considered as single entity based on molecular profiles and outcomes.

Blood Advances
Carreño-Tarragona, Gonzalo G; Alvarez-Larran, Alberto A; Harrison, Claire N CN; Martínez-Ávila, José Carlos JC; Hernandez-Boluda, Juan Carlos JC; Ferrer-Marin, Francisca F; Radia, Deepti H DH; Mora Casterá, Elvira E; Francis, Sebastian S; González-Martínez, Teresa T; Goddard, Kathryn K; Perez-Encinas, Manuel M; Narayanan, Srinivasan S; Raya, Jose Maria JM; Singh, Vikram V; Toth, Peter P; Gutiérrez, Xabier X; Amat Martinez, Paula P; McIlwaine, Louisa L; Alobaidi, Magda M; Mayani, Karan K; McGregor, Andrew A; Stuckey, Ruth R; Psaila, Bethan B; Segura, Adrian A; Alvares, Caroline L CL; Davidson, Kerri K; Osorio, Santiago S; Cutting, Robert R; Sweeney, Caroline P CP; Rufian, Laura L; Moreno, Laura L; Cuenca, Isabel I; Smith, Jeffrey J; Morales, María Luz ML; Gil-Manso, Rodrigo R; Koutsavlis, Ioannis I; Wang, Lihui L; Mead, Adam J AJ; Rozman, Maria M; Martínez-López, Joaquin J; Ayala, Rosa R; Cross, Nicholas Cp NC
Publication Date: 2022-11-14

Variant appearance in text: DNMT3A: 2447A>T
PubMed Link: 36375042
Variant Present in the following documents:
  • BLOODA_ADV-2022-008204-mmc1.pdf
View BVdb publication page



Prevalence and variation of CHIP in patients with aggressive lymphomas undergoing CD19-directed CAR T-cell treatment.

Blood Advances
Teipel, Raphael R; Kroschinsky, Frank F; Kramer, Michael M; Kretschmann, Theresa T; Egger-Heidrich, Katharina K; Krüger, Thomas T; Ruhnke, Leo L; Herold, Sylvia S; Stasik, Sebastian S; Sockel, Katja K; Middeke, Jan M JM; Trautmann-Grill, Karolin K; Bornhäuser, Martin M; Thiede, Christian C; von Bonin, Malte M
Publication Date: 2022-03-22

Variant appearance in text: DNMT3A: 2447A>T; Gln816Leu
PubMed Link: 35008107
Variant Present in the following documents:
  • advancesADV2021005747-suppl1.pdf
View BVdb publication page



Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Annals Of Hematology
Becker, Heiko H; Pfeifer, Dietmar D; Ihorst, Gabriele G; Pantic, Milena M; Wehrle, Julius J; Rüter, Björn H BH; Bullinger, Lars L; Hackanson, Björn B; Germing, Ulrich U; Kuendgen, Andrea A; Platzbecker, Uwe U; Döhner, Konstanze K; Ganser, Arnold A; Hagemeijer, Anne A; Wijermans, Pierre W PW; Döhner, Hartmut H; Duyster, Justus J; Lübbert, Michael M
Publication Date: 2020-07

Variant appearance in text: DNMT3A: 2447A>T
PubMed Link: 32504186
Variant Present in the following documents:
  • 277_2020_4082_MOESM1_ESM.pdf
View BVdb publication page



An optimized targeted Next-Generation Sequencing approach for sensitive detection of single nucleotide variants.

Biomolecular Detection And Quantification
Stasik, S S; Schuster, C C; Ortlepp, C C; Platzbecker, U U; Bornhäuser, M M; Schetelig, J J; Ehninger, G G; Folprecht, G G; Thiede, C C
Publication Date: 2018-05

Variant appearance in text: DNMT3A: 2447A>T
PubMed Link: 29349042
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population.

Annals Of Laboratory Medicine
Park, Sang Hyuk SH; Lee, Hyun Ji HJ; Kim, In-Suk IS; Kang, Jeong-Eun JE; Lee, Eun Yup EY; Kim, Hyeoung-Joon HJ; Kim, Yeo-Kyeoung YK; Won, Jong-Ho JH; Bang, Soo Mee SM; Kim, Hawk H; Song, Moo-Kon MK; Chung, Joo Seop JS; Shin, Ho-Jin HJ
Publication Date: 2015-05

Variant appearance in text: DNMT3A: 2447A>T
PubMed Link: 25932436
Variant Present in the following documents:
  • Main text
View BVdb publication page