TERT c.1936C>T ;(p.R646C)

Variant ID: 5-1280287-G-A

NM_198253.2(TERT):c.1936C>T;(p.R646C)

This variant was identified in 5 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: TERT: R646C
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TERT: R646C; rs147521473
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TERT: 1936C>T; R646C
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.

Hepatology (Baltimore, Md.)
Chiu, Victor V; Hogen, Rachel R; Sher, Linda L; Wadé, Niquelle N; Conti, David D; Martynova, Anastasia A; Li, Hongtao H; Liang, Gangning G; O'Connell, Casey C
Publication Date: 2019-06

Variant appearance in text: TERT: 1936C>T; Arg646Cys
PubMed Link: 30964210
Variant Present in the following documents:
  • Main text
  • HEP-69-2652.pdf
View BVdb publication page



Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

The Journal Of Experimental Medicine
Moffitt, Andrea B AB; Ondrejka, Sarah L SL; McKinney, Matthew M; Rempel, Rachel E RE; Goodlad, John R JR; Teh, Chun Huat CH; Leppa, Sirpa S; Mannisto, Susanna S; Kovanen, Panu E PE; Tse, Eric E; Au-Yeung, Rex K H RKH; Kwong, Yok-Lam YL; Srivastava, Gopesh G; Iqbal, Javeed J; Yu, Jiayu J; Naresh, Kikkeri K; Villa, Diego D; Gascoyne, Randy D RD; Said, Jonathan J; Czader, Magdalena B MB; Chadburn, Amy A; Richards, Kristy L KL; Rajagopalan, Deepthi D; Davis, Nicholas S NS; Smith, Eileen C EC; Palus, Brooke C BC; Tzeng, Tiffany J TJ; Healy, Jane A JA; Lugar, Patricia L PL; Datta, Jyotishka J; Love, Cassandra C; Levy, Shawn S; Dunson, David B DB; Zhuang, Yuan Y; Hsi, Eric D ED; Dave, Sandeep S SS
Publication Date: 2017-05-01

Variant appearance in text: TERT: R646C
PubMed Link: 28424246
Variant Present in the following documents:
  • JEM_20160894_TableS1-S10.xlsx, sheet 1
View BVdb publication page