ATM c.237del ;(p.K79Nfs*37)

Variant ID: 11-108099952-CA-C

NM_000051.3(ATM):c.237del;(p.K79Nfs*37)

This variant was identified in 5 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: 237del; Lys79fs
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: 237delA; K79fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.

Clinical Immunology (Orlando, Fla.)
Minto, Heather H; Mensah, Kofi A KA; Reynolds, Paul R PR; Meffre, Eric E; Rubtsova, Kira K; Gelfand, Erwin W EW
Publication Date: 2019-03

Variant appearance in text: ATM: 237delA
PubMed Link: 30639167
Variant Present in the following documents:
  • Main text
View BVdb publication page



2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Journal Of Clinical Immunology
Publication Date: 2018-04

Variant appearance in text: ATM: 237delA
PubMed Link: 29682684
Variant Present in the following documents:
  • Main text
  • 10875_2018_Article_485.pdf
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: 237delA; Lys79AsnfsX37
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page