ATM c.1940A>G ;(p.E647G)

Variant ID: 11-108124582-A-G

NM_000051.3(ATM):c.1940A>G;(p.E647G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Coombs, Catherine C CC; Gillis, Nancy K NK; Tan, Xianming X; Berg, Jonathan S JS; Ball, Markus M; Balasis, Maria E ME; Montgomery, Nathan D ND; Bolton, Kelly L KL; Parker, Joel S JS; Mesa, Tania E TE; Yoder, Sean J SJ; Hayward, Michele C MC; Patel, Nirali M NM; Richards, Kristy L KL; Walko, Christine M CM; Knepper, Todd C TC; Soper, John T JT; Weiss, Jared J; Grilley-Olson, Juneko E JE; Kim, William Y WY; Earp, H Shelton HS; Levine, Ross L RL; Papaemmanuil, Elli E; Zehir, Ahmet A; Hayes, D Neil DN; Padron, Eric E
Publication Date: 2018-12-01

Variant appearance in text: ATM: E647G
PubMed Link: 29866652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: ATM: 1940A>G; Glu647Gly
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page