ATM c.3245_3247delinsTGAT ;(p.H1082Lfs*14)

Variant ID: 11-108143540-ATC-TGAT

NM_000051.3(ATM):c.3245_3247delinsTGAT;(p.H1082Lfs*14)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082fs; rs587776549
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 3245_3247delinsTGAT; His1082fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3245_3247delATCinsTGAT; His1082Leufs; rs587776549
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082Leufs*14
PubMed Link: 31882575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Publication Date: 2020-02

Variant appearance in text: ATM: 3245_3247delATCinsTGAT; H1082fs
PubMed Link: 31880409
Variant Present in the following documents:
  • MGG3-8-e1053-s001.xlsx, sheet 1
  • MGG3-8-e1053-s002.xlsx, sheet 1
View BVdb publication page



Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Scientific Reports
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Holth, Arild A; Capella, Gabriel G; Davidson, Ben B; Evans, D Gareth DG; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2019-12-06

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082Leufs
PubMed Link: 31811167
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_54517.pdf
View BVdb publication page



A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Plos One
Oliver, Gavin R GR; Tang, Xiaojia X; Schultz-Rogers, Laura E LE; Vidal-Folch, Noemi N; Jenkinson, W Garrett WG; Schwab, Tanya L TL; Gaonkar, Krutika K; Cousin, Margot A MA; Nair, Asha A; Basu, Shubham S; Chanana, Pritha P; Oglesbee, Devin D; Klee, Eric W EW
Publication Date: 2019

Variant appearance in text: ATM: 3245_3247delinsTGAT; H1082Lfs*14
PubMed Link: 31577830
Variant Present in the following documents:
  • pone.0223337.s002.xlsx, sheet 1
View BVdb publication page



A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.

International Journal Of Oncology
Lang, Shona H SH; Swift, Stephanie L SL; White, Heath H; Misso, Kate K; Kleijnen, Jos J; Quek, Ruben G W RGW
Publication Date: 2019-09

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082LeufsX14
PubMed Link: 31322208
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
Publication Date: 2018-01

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082Leufs*14
PubMed Link: 28726808
Variant Present in the following documents:
  • Main text
  • nihms885107.pdf
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: 3245_3247delATCinsTGAT; His1082Leufs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: ATM: 3245_3247delATCinsTGAT; His1082fs
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

Bmj Open
Hart, Steven N SN; Ellingson, Marissa S MS; Schahl, Kim K; Vedell, Peter T PT; Carlson, Rachel E RE; Sinnwell, Jason P JP; Barman, Poulami P; Sicotte, Hugues H; Eckel-Passow, Jeanette E JE; Wang, Liguo L; Kalari, Krishna R KR; Qin, Rui R; Kruisselbrink, Teresa M TM; Jimenez, Rafael E RE; Bryce, Alan H AH; Tan, Winston W; Weinshilboum, Richard R; Wang, Liewei L; Kohli, Manish M
Publication Date: 2016-04-15

Variant appearance in text: ATM: 3245_3247delinsTGAT; His1082LeufsX14
PubMed Link: 27084275
Variant Present in the following documents:
  • Main text
  • bmjopen-2015-010332.pdf
View BVdb publication page