ATM c.370A>G ;(p.I124V)

Variant ID: 11-108106435-A-G

NM_000051.3(ATM):c.370A>G;(p.I124V)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Hereditary variants of unknown significance in African American women with breast cancer.

Plos One
McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ
Publication Date: 2022

Variant appearance in text: ATM: I124V; rs148590073
PubMed Link: 36315513
Variant Present in the following documents:
  • pone.0273835.s001.xlsx, sheet 1
View BVdb publication page



Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18

Variant appearance in text: ATM: 370A>G; Ile124Val
PubMed Link: 35585550
Variant Present in the following documents:
  • 13073_2022_1052_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

Journal Of Clinical Immunology
El Hawary, Rabab E RE; Meshaal, Safa S SS; Abd Elaziz, Dalia S DS; Alkady, Radwa R; Lotfy, Sohilla S; Eldash, Alia A; Erfan, Aya A; Chohayeb, Engy A EA; Saad, Mai M MM; Darwish, Rania K RK; Boutros, Jeannette A JA; Galal, Nermeen M NM; Elmarsafy, Aisha M AM
Publication Date: 2022-07

Variant appearance in text: ATM: Ile124Val; rs148590073
PubMed Link: 35482138
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1272.pdf
View BVdb publication page



p16INK4A-deficiency predicts response to combined HER2 and CDK4/6 inhibition in HER2+ breast cancer brain metastases.

Nature Communications
Ni, Jing J; Kabraji, Sheheryar S; Xie, Shaozhen S; Wang, Yanzhi Y; Pan, Peichen P; He, Xiaofang X; Liu, Zongming Z; Leone, Jose Palbo JP; Long, Henry W HW; Brown, Myles A MA; Winer, Eric P EP; Dillon, Deborah A R DAR; Lin, Nancy U NU; Zhao, Jean J JJ
Publication Date: 2022-03-18

Variant appearance in text: ATM: Ile124Val
PubMed Link: 35304445
Variant Present in the following documents:
  • 41467_2022_29081_MOESM3_ESM.xlsx, sheet 16
View BVdb publication page



Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,
Publication Date: 2021-11

Variant appearance in text: rs148590073
PubMed Link: 34262154
Variant Present in the following documents:
  • 41436_2021_1240_MOESM2_ESM.xlsx, sheet 1
  • 41436_2021_1240_MOESM3_ESM.xlsx, sheet 1
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: 370A>G; I124V; rs148590073
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
Publication Date: 2020-10

Variant appearance in text: ATM: Ile124Val
PubMed Link: 33085659
Variant Present in the following documents:
  • Main text
  • pgen.1009100.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: ATM: 370A>G; I124V; rs148590073
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: ATM: 370A>G; I124V
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Oncotarget
Hovelson, Daniel H DH; Liu, Chia-Jen CJ; Wang, Yugang Y; Kang, Qing Q; Henderson, James J; Gursky, Amy A; Brockman, Scott S; Ramnath, Nithya N; Krauss, John C JC; Talpaz, Moshe M; Kandarpa, Malathi M; Chugh, Rashmi R; Tuck, Missy M; Herman, Kirk K; Grasso, Catherine S CS; Quist, Michael J MJ; Feng, Felix Y FY; Haakenson, Christine C; Langmore, John J; Kamberov, Emmanuel E; Tesmer, Tim T; Husain, Hatim H; Lonigro, Robert J RJ; Robinson, Dan D; Smith, David C DC; Alva, Ajjai S AS; Hussain, Maha H MH; Chinnaiyan, Arul M AM; Tewari, Muneesh M; Mills, Ryan E RE; Morgan, Todd M TM; Tomlins, Scott A SA
Publication Date: 2017-10-27

Variant appearance in text: ATM: I124V
PubMed Link: 29163793
Variant Present in the following documents:
  • oncotarget-08-89848-s001.pdf
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: 370A>G; I124V; rs148590073
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.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: 370A>G; Ile124Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017

Variant appearance in text: ATM: I124V; rs148590073
PubMed Link: 28076423
Variant Present in the following documents:
  • pone.0167581.s001.xlsx, sheet 1
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: ATM: I124V; rs148590073
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



Incidence and clinical implications of ATM aberrations in chronic lymphocytic leukemia.

Genes, Chromosomes & Cancer
Ouillette, Peter P; Li, Jinghui J; Shaknovich, Rita R; Li, Yifeng Y; Melnick, Ari A; Shedden, Kerby K; Malek, Sami N SN
Publication Date: 2012-12

Variant appearance in text: ATM: 370A>G
PubMed Link: 22952040
Variant Present in the following documents:
  • Main text
View BVdb publication page