ATM c.9086G>A ;(p.G3029D)

Variant ID: 11-108236150-G-A

NM_000051.3(ATM):c.9086G>A;(p.G3029D)

This variant was identified in 15 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: 9086G>A; Gly3029Asp; rs201199629
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: ATM: 9086G>A
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A Malignant Glomus Tumor of the Liver Harboring MIR143-NOTCH2 Rearrangement: From Diagnosis to Management.

Cureus
Miao, Ruoyu R; Bui, Marilyn M MM; Walko, Christine C; Mullinax, John E JE; Brohl, Andrew S AS
Publication Date: 2022-10

Variant appearance in text: ATM: G3029D
PubMed Link: 36439569
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000030718.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: 9086G>A; Gly3029Asp; rs201199629
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

European Urology Oncology
Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z
Publication Date: 2021-08

Variant appearance in text: ATM: 9086G>A; G3029D
PubMed Link: 33436325
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation
Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI
Publication Date: 2021-03

Variant appearance in text: ATM: 9086G>A; Gly3029Asp
PubMed Link: 33326660
Variant Present in the following documents:
  • HUMU-42-290-s006.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation
Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI
Publication Date: 2021-03

Variant appearance in text: ATM: 9086G>A; Gly3029Asp
PubMed Link: 33326660
Variant Present in the following documents:
  • HUMU-42-290-s006.xlsx, sheet 4
View BVdb publication page



Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.

Frontiers In Oncology
Grasel, Rebeca Silveira RS; Felicio, Paula Silva PS; de Paula, André Escremim AE; Campacci, Natalia N; Garcia, Felipe Antônio de Oliveira FAO; de Andrade, Edilene Santos ES; Evangelista, Adriane Feijó AF; Fernandes, Gabriela Carvalho GC; Sabato, Cristina da Silva CDS; De Marchi, Pedro P; Souza, Cristiano de Pádua CP; de Paula, Cláudia Alessandra Andrade CAA; Torrezan, Giovana Tardin GT; Galvão, Henrique de Campos Reis HCR; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI
Publication Date: 2020

Variant appearance in text: ATM: 9086G>A; Gly3029Asp
PubMed Link: 33134171
Variant Present in the following documents:
  • Main text
  • fonc-10-571330.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: 9086G>A; G3029D; rs201199629
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Bmc Cancer
Young, Erin L EL; Thompson, Bryony A BA; Neklason, Deborah W DW; Firpo, Matthew A MA; Werner, Theresa T; Bell, Russell R; Berger, Justin J; Fraser, Alison A; Gammon, Amanda A; Koptiuch, Cathryn C; Kohlmann, Wendy K WK; Neumayer, Leigh L; Goldgar, David E DE; Mulvihill, Sean J SJ; Cannon-Albright, Lisa A LA; Tavtigian, Sean V SV
Publication Date: 2018-06-27

Variant appearance in text: ATM: 9086G>A; G3029D
PubMed Link: 29945567
Variant Present in the following documents:
  • 12885_2018_4573_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: ATM: G3029D
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, 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: 9086G>A; Gly3029Asp; rs201199629
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: 9086G>A; Gly3029Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics
Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV
Publication Date: 2016-06

Variant appearance in text: ATM: 9086G>A; G3029D
PubMed Link: 26787654
Variant Present in the following documents:
  • jmedgenet-2015-103398-s2.pdf
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: ATM: G3029D
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s13.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: G3029D
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page