ATM c.4564G>C ;(p.G1522R)

Variant ID: 11-108163473-G-C

NM_000051.3(ATM):c.4564G>C;(p.G1522R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications
Pereira, Bernard B; Chen, Christopher T CT; Goyal, Lipika L; Walmsley, Charlotte C; Pinto, Christopher J CJ; Baiev, Islam I; Allen, Read R; Henderson, Laura L; Saha, Supriya S; Reyes, Stephanie S; Taylor, Martin S MS; Fitzgerald, Donna M DM; Broudo, Maida Williams MW; Sahu, Avinash A; Gao, Xin X; Winckler, Wendy W; Brannon, A Rose AR; Engelman, Jeffrey A JA; Leary, Rebecca R; Stone, James R JR; Campbell, Catarina D CD; Juric, Dejan D
Publication Date: 2021-05-27

Variant appearance in text: ATM: G1522R
PubMed Link: 34045463
Variant Present in the following documents:
  • 41467_2021_23394_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and molecular characteristics of XPO1 mutations in patients with chronic lymphocytic leukemia.

American Journal Of Hematology
Jain, Preetesh P; Kanagal-Shamanna, Rashmi R; Wierda, William W; Keating, Michael M; Sarwari, Nawid N; Rozovski, Uri U; Thompson, Philip P; Burger, Jan J; Kantarjian, Hagop H; Patel, Keyur P KP; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R; Estrov, Zeev Z
Publication Date: 2016-11

Variant appearance in text: ATM: 4564G>C; G1522R
PubMed Link: 27468087
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia.

Plos One
Hernández, José Ángel JÁ; Hernández-Sánchez, María M; Rodríguez-Vicente, Ana Eugenia AE; Grossmann, Vera V; Collado, Rosa R; Heras, Cecilia C; Puiggros, Anna A; Martín, Ana África AÁ; Puig, Noemí N; Benito, Rocío R; Robledo, Cristina C; Delgado, Julio J; González, Teresa T; Queizán, José Antonio JA; Galende, Josefina J; de la Fuente, Ignacio I; Martín-Núñez, Guillermo G; Alonso, José María JM; Abrisqueta, Pau P; Luño, Elisa E; Marugán, Isabel I; González-Gascón, Isabel I; Bosch, Francesc F; Kohlmann, Alexander A; González, Marcos M; Espinet, Blanca B; Hernández-Rivas, Jesús María JM; ,
Publication Date: 2015

Variant appearance in text: ATM: 4564G>C; Gly1522Arg
PubMed Link: 26630574
Variant Present in the following documents:
  • Main text
  • pone.0143073.pdf
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: ATM: 4564G>C; G1522R
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
  • NIHMS715090-supplement-Supplementary_Table_10.xlsx, sheet 1
View BVdb publication page