ATM c.5793T>G ;(p.A1931=)

Variant ID: 11-108180917-T-G

NM_000051.3(ATM):c.5793T>G;(p.A1931=)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: ATM: A1931A; rs3092910
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: ATM: Ala1931=; rs3092910
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: ATM: Ala1931=; rs3092910
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs3092910
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: ATM: A1931A
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length.

Frontiers In Genetics
van der Spek, Ashley A; Warner, Sophie C SC; Broer, Linda L; Nelson, Christopher P CP; Vojinovic, Dina D; Ahmad, Shahzad S; Arp, Pascal P PP; Brouwer, Rutger W W RWW; Denniff, Matthew M; van den Hout, Mirjam C G N MCGN; van Rooij, Jeroen G J JGJ; Kraaij, Robert R; van IJcken, Wilfred F J WFJ; Samani, Nilesh J NJ; Ikram, M Arfan MA; Uitterlinden, André G AG; Codd, Veryan V; Amin, Najaf N; van Duijn, Cornelia M CM
Publication Date: 2020

Variant appearance in text: rs3092910
PubMed Link: 32425970
Variant Present in the following documents:
  • Main text
  • fgene-11-00337.pdf
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: ATM: A1931A; rs3092910
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: ATM: Ala1931Ala; rs3092910
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity.

Practical Laboratory Medicine
Cravero, Karen K; Medford, Arielle A; Pallavajjala, Aparna A; Canzoniero, Jenna J; Hunter, Natasha N; Chu, David D; Cochran, Rory L RL; Waters, Ian I; Christenson, Eric S ES; Kyker-Snowman, Kelly K; Button, Berry B; Cole, Alex J AJ; Park, Ben Ho BH
Publication Date: 2018-11

Variant appearance in text: ATM: A1931A
PubMed Link: 30140723
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing.

Journal Of Applied Genetics
Lee, Ji Won JW; Shin, Jong-Yeon JY; Seo, Jeong-Sun JS
Publication Date: 2018-08

Variant appearance in text: ATM: A1931A
PubMed Link: 29525983
Variant Present in the following documents:
  • 13353_2018_439_MOESM3_ESM.xlsx, sheet 2
  • 13353_2018_439_MOESM4_ESM.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: rs3092910
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
  • jmedgenet-2017-104588supp007.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: ATM: Ala1931=; rs3092910
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ATM: A1931A; rs3092910
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.

Frontiers In Oncology
Petereit, Daniel G DG; Hahn, L Jennifer LJ; Kanekar, Shalini S; Boylan, Amy A; Bentzen, Søren M SM; Ritter, Mark M; Moser, Amy R AR
Publication Date: 2013

Variant appearance in text: rs3092910
PubMed Link: 24416720
Variant Present in the following documents:
  • Main text
  • fonc-03-00318.pdf
View BVdb publication page



Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

Radiation Oncology (London, England)
Edvardsen, Hege H; Tefre, Toril T; Jansen, Laila L; Vu, Phuong P; Haffty, Bruce G BG; Fosså, Sophie D SD; Kristensen, Vessela N VN; Børresen-Dale, Anne-Lise AL
Publication Date: 2007-07-10

Variant appearance in text: rs3092910
PubMed Link: 17623063
Variant Present in the following documents:
  • Main text
  • 1748-717X-2-25.pdf
View BVdb publication page



ATM variants and cancer risk in breast cancer patients from Southern Finland.

Bmc Cancer
Tommiska, Johanna J; Jansen, Laila L; Kilpivaara, Outi O; Edvardsen, Hege H; Kristensen, Vessela V; Tamminen, Anitta A; Aittomäki, Kristiina K; Blomqvist, Carl C; Børresen-Dale, Anne-Lise AL; Nevanlinna, Heli H
Publication Date: 2006-08-16

Variant appearance in text: ATM: A1931A
PubMed Link: 16914028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG
Publication Date: 2003-04-29

Variant appearance in text: ATM: A1931A
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page