ATM c.2143C>G ;(p.L715V)

Variant ID: 11-108126960-C-G

NM_000051.3(ATM):c.2143C>G;(p.L715V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Spatiotemporal assessment of immunogenomic heterogeneity in multiple myeloma.

Blood Advances
Merz, Maximilian M; Hu, Qiang Q; Merz, Almuth Maria Anni AMA; Wang, Jie J; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie A; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph D JD; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant K PK; Samur, Mehmet Kemal MK; Munshi, Nikhil C NC; Liu, Song S; McCarthy, Philip L PL; Wei, Lei L; Hillengass, Jens J
Publication Date: 2022-07-22

Variant appearance in text: ATM: L715V
PubMed Link: 35868022
Variant Present in the following documents:
  • BLOODA_ADV-2022-007457-mmc2.xlsx, sheet 1
View BVdb publication page



Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
Publication Date: 2021-07-02

Variant appearance in text: ATM: Leu715Val
PubMed Link: 34215841
Variant Present in the following documents:
  • 41698_2021_202_MOESM1_ESM.pdf
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: 2143C>G; Leu715Val
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: ATM: 2143C>G; L715V
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page