KMT2D c.10821_10823del ;(p.Q3612del)

Variant ID: 12-49427664-TTGC-T

NM_003482.3(KMT2D):c.10821_10823del;(p.Q3612del)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: KMT2D: 10821_10823del; Q3612del
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: KMT2D: 10820_10822del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of Genetic Alterations in Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma With Whole-Exome Sequencing.

Frontiers In Oncology
Zhao, Andi A; Wu, Fangtian F; Wang, Yue Y; Li, Jianyong J; Xu, Wei W; Liu, Hu H
Publication Date: 2022

Variant appearance in text: KMT2D: 10821_10823del
PubMed Link: 35359413
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: KMT2D: 10821_10823del; Gln3612del
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

European Journal Of Cancer (Oxford, England : 1990)
George, Sally L SL; Izquierdo, Elisa E; Campbell, James J; Koutroumanidou, Eleni E; Proszek, Paula P; Jamal, Sabri S; Hughes, Deborah D; Yuan, Lina L; Marshall, Lynley V LV; Carceller, Fernando F; Chisholm, Julia C JC; Vaidya, Sucheta S; Mandeville, Henry H; Angelini, Paola P; Wasti, Ajla A; Bexelius, Tomas T; Thway, Khin K; Gatz, Susanne A SA; Clarke, Matthew M; Al-Lazikani, Bissan B; Barone, Giuseppe G; Anderson, John J; Tweddle, Deborah A DA; Gonzalez, David D; Walker, Brian A BA; Barton, Jack J; Depani, Sarita S; Eze, Jessica J; Ahmed, Saira W SW; Moreno, Lucas L; Pearson, Andrew A; Shipley, Janet J; Jones, Chris C; Hargrave, Darren D; Jacques, Thomas S TS; Hubank, Michael M; Chesler, Louis L
Publication Date: 2019-11

Variant appearance in text: KMT2D: 10821_10823delGCA; Gln3612del
PubMed Link: 31543384
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Publication Date: 2019-05-16

Variant appearance in text: KMT2D: 10821_10823del
PubMed Link: 31097695
Variant Present in the following documents:
  • 41467_2019_9937_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Robust identification of mosaic variants in congenital heart disease.

Human Genetics
Manheimer, Kathryn B KB; Richter, Felix F; Edelmann, Lisa J LJ; D'Souza, Sunita L SL; Shi, Lisong L; Shen, Yufeng Y; Homsy, Jason J; Boskovski, Marko T MT; Tai, Angela C AC; Gorham, Joshua J; Yasso, Christopher C; Goldmuntz, Elizabeth E; Brueckner, Martina M; Lifton, Richard P RP; Chung, Wendy K WK; Seidman, Christine E CE; Seidman, J G JG; Gelb, Bruce D BD
Publication Date: 2018-02

Variant appearance in text: KMT2D: Q3607del
PubMed Link: 29417219
Variant Present in the following documents:
  • Main text
View BVdb publication page