POLE c.1190A>G ;(p.Y397C)

Variant ID: 12-133252020-T-C

NM_006231.2(POLE):c.1190A>G;(p.Y397C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: POLE: Y397C; rs761203384
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Phenotype of POLE-mutated endometrial cancer.

Plos One
Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW
Publication Date: 2019

Variant appearance in text: POLE: 1190A>G; Y397C
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: POLE: 1190A>G; Y397C
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page