ATM c.5946del ;(p.N1983Ifs*7)

Variant ID: 11-108183165-AG-A

NM_000051.3(ATM):c.5946del;(p.N1983Ifs*7)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: ATM: 5946del
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: ATM: 5946del
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
View BVdb publication page



Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International
Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R
Publication Date: 2020

Variant appearance in text: ATM: 5946del
PubMed Link: 32090079
Variant Present in the following documents:
  • BMRI2020-3289023.pdf
View BVdb publication page