DNMT3A c.407G>A ;(p.C136Y)

Variant ID: 2-25505351-C-T

NM_022552.4(DNMT3A):c.407G>A;(p.C136Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: DNMT3A: 407G>A
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21

Variant appearance in text: DNMT3A: 407G>A
PubMed Link: 35861108
Variant Present in the following documents:
  • CAM4-12-1972-s008.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: 407G>A; Cys136Tyr
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer.

Molecular & Cellular Oncology
Douglas, Jason K JK; Callahan, Rose E RE; Hothem, Zachary A ZA; Cousineau, Craig S CS; Kawak, Samer S; Thibodeau, Bryan J BJ; Bergeron, Shelli S; Li, Wei W; Peeples, Claire E CE; Wasvary, Harry J HJ
Publication Date: 2020

Variant appearance in text: DNMT3A: 407G>A
PubMed Link: 32391418
Variant Present in the following documents:
  • Main text
View BVdb publication page



High prevalence of focal and multi-focal somatic genetic variants in the human brain.

Nature Communications
Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Walker, Lauren L; van den Ameele, Jelle J; Coxhead, Jon J; Wilson, Ian I; Bashton, Matthew M; Beck, Jon J; West, John J; Chen, Richard R; Haudenschild, Christian C; Bartha, Gabor G; Luo, Shujun S; Morris, Chris M CM; Jones, Nick S NS; Attems, Johannes J; Chinnery, Patrick F PF
Publication Date: 2018-10-15

Variant appearance in text: DNMT3A: C136Y
PubMed Link: 30323172
Variant Present in the following documents:
  • 41467_2018_6331_MOESM1_ESM.pdf
View BVdb publication page



Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Leukemia
Rothenberg-Thurley, Maja M; Amler, Susanne S; Goerlich, Dennis D; Köhnke, Thomas T; Konstandin, Nikola P NP; Schneider, Stephanie S; Sauerland, Maria C MC; Herold, Tobias T; Hubmann, Max M; Ksienzyk, Bianka B; Zellmeier, Evelyn E; Bohlander, Stefan K SK; Subklewe, Marion M; Faldum, Andreas A; Hiddemann, Wolfgang W; Braess, Jan J; Spiekermann, Karsten K; Metzeler, Klaus H KH
Publication Date: 2018-07

Variant appearance in text: DNMT3A: 407G>A
PubMed Link: 29472724
Variant Present in the following documents:
  • 41375_2018_34_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page