TERT c.2188G>A ;(p.A730T)

Variant ID: 5-1278854-C-T

NM_198253.2(TERT):c.2188G>A;(p.A730T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: TERT: A730T
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 4
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: A730T; rs761116773
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS
Publication Date: 2019-07

Variant appearance in text: TERT: 2188G>A; A730T
PubMed Link: 30523342
Variant Present in the following documents:
  • 41436_2018_385_MOESM1_ESM.pdf
View BVdb publication page