ATM c.3049C>T ;(p.Q1017*)

Variant ID: 11-108142105-C-T

NM_000051.3(ATM):c.3049C>T;(p.Q1017*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 3049C>T; Gln1017Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology
Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H
Publication Date: 2021

Variant appearance in text: ATM: 3049C>T; Gln1017*
PubMed Link: 35095854
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: ATM: 3049C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: ATM: 3049C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.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: 3049C>T; Q1017X; rs730881388
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



A comparative study of curated contents by knowledge-based curation system in cancer clinical sequencing.

Scientific Reports
Sakai, Kazuko K; Takeda, Masayuki M; Shimizu, Shigeki S; Takahama, Takayuki T; Yoshida, Takeshi T; Watanabe, Satomi S; Iwasa, Tsutomu T; Yonesaka, Kimio K; Suzuki, Shinichiro S; Hayashi, Hidetoshi H; Kawakami, Hisato H; Nonagase, Yoshikane Y; Tanaka, Kaoru K; Tsurutani, Junji J; Saigoh, Kazumasa K; Ito, Akihiko A; Mitsudomi, Tetsuya T; Nakagawa, Kazuhiko K; Nishio, Kazuto K
Publication Date: 2019-08-05

Variant appearance in text: ATM: Gln1017*
PubMed Link: 31383922
Variant Present in the following documents:
  • 41598_2019_47673_MOESM1_ESM.pdf
View BVdb publication page



Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hereditary Cancer In Clinical Practice
Gardner, Sabrina A SA; Weymouth, Katelyn S KS; Kelly, Wei S WS; Bogdanova, Ekaterina E; Chen, Wenjie W; Lupu, Daniel D; Suhl, Joshua J; Zeng, Qiandong Q; Geigenmüller, Ute U; Boles, Debbie D; Okamoto, Patricia M PM; McDowell, Geraldine G; Hayden, Melissa A MA; Nagan, Narasimhan N
Publication Date: 2018

Variant appearance in text: ATM: 3049C>T; Gln1017*
PubMed Link: 29308099
Variant Present in the following documents:
  • 13053_2017_83_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ATM: 3049C>T; Gln1017Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08

Variant appearance in text: ATM: 3049C>T; Gln1017Ter
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page