ATM c.176C>T ;(p.A59V)

Variant ID: 11-108098606-C-T

NM_000051.3(ATM):c.176C>T;(p.A59V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: ATM: 176C>T
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s002.xlsx, sheet 1
View BVdb publication page



Elucidation of genomic origin of synchronous endometrial and ovarian cancer (SEO) by genomic and microsatellite analysis.

Journal Of Gynecologic Oncology
Sakamoto, Ikuko I; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nozaki, Takahiro T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2022-10-06

Variant appearance in text: ATM: Ala59Val
PubMed Link: 36245225
Variant Present in the following documents:
  • jgo-34-e6.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 176C>T; A59V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: ATM: A59V
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 8
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: ATM: A59V
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer
Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E
Publication Date: 2018-06

Variant appearance in text: ATM: A59V
PubMed Link: 29872146
Variant Present in the following documents:
  • 41416_2018_89_MOESM2_ESM.xls, sheet 1
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: 176C>T; Ala59Val; rs760880388
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: ATM: 176C>T
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Pancancer modelling predicts the context-specific impact of somatic mutations on transcriptional programs.

Nature Communications
Osmanbeyoglu, Hatice U HU; Toska, Eneda E; Chan, Carmen C; Baselga, José J; Leslie, Christina S CS
Publication Date: 2017-01-31

Variant appearance in text: ATM: A59V
PubMed Link: 28139702
Variant Present in the following documents:
  • ncomms14249-s2.xlsx, sheet 67
  • ncomms14249-s2.xlsx, sheet 66
  • ncomms14249-s2.xlsx, sheet 65
View BVdb publication page