ATM c.131A>G ;(p.D44G)

Variant ID: 11-108098561-A-G

NM_000051.3(ATM):c.131A>G;(p.D44G)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Hereditary variants of unknown significance in African American women with breast cancer.

Plos One
McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ
Publication Date: 2022

Variant appearance in text: ATM: D44G; rs150143957
PubMed Link: 36315513
Variant Present in the following documents:
  • pone.0273835.s001.xlsx, sheet 1
View BVdb publication page



Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 131A>G; Asp44Gly; rs150143957
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
  • 41598_2022_Article_4791.pdf
View BVdb publication page



Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: ATM: 131A>G; Asp44Gly; rs150143957
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
  • 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
  • 41598_2022_Article_4791.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: 131A>G; Asp44Gly; rs150143957
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Screening of germline mutations in young Rwandan patients with breast cancers.

Molecular Genetics & Genomic Medicine
Uyisenga, Jeanne P JP; Segers, Karin K; Lumaka, Aimé Z AZ; Mugenzi, Pacifique P; Fasquelle, Corinne C; Boujemila, Bouchra B; Josse, Claire C; Mutesa, Leon L; Bours, Vincent V
Publication Date: 2020-11

Variant appearance in text: ATM: 131A>G; Asp44Gly; rs150143957
PubMed Link: 32959997
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1500.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: ATM: D44G
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Adedokun, Babatunde B; Zheng, Yonglan Y; Ndom, Paul P; Gakwaya, Antony A; Makumbi, Timothy T; Zhou, Alicia Y AY; Yoshimatsu, Toshio F TF; Rodriguez, Alex A; Madduri, Ravi K RK; Foster, Ian T IT; Sallam, Aminah A; Olopade, Olufunmilayo I OI; Huo, Dezheng D
Publication Date: 2020-02

Variant appearance in text: ATM: 131A>G; Asp44Gly
PubMed Link: 31871109
Variant Present in the following documents:
  • Main text
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: 131A>G; Asp44Gly
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: ATM: D44G
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.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: D44G; rs150143957
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page