ATM c.4329C>A ;(p.H1443Q)

Variant ID: 11-108160421-C-A

NM_000051.3(ATM):c.4329C>A;(p.H1443Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: ATM: H1443Q
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ATM: H1443Q; rs377065665
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.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: 4329C>A; His1443Gln; rs377065665
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: 4329C>A; His1443Gln; rs377065665
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: 4329C>A; H1443Q; rs377065665
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: 4329C>A; His1443Gln
PubMed Link: 31871109
Variant Present in the following documents:
  • Main text
View BVdb publication page