NOTCH1 c.6815G>A ;(p.R2272H)

Variant ID: 9-139391376-C-T

NM_017617.3(NOTCH1):c.6815G>A;(p.R2272H)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Bmc Medical Genomics
Onishi, Shumpei S; Yamasaki, Fumiyuki F; Kuraoka, Kazuya K; Taguchi, Akira A; Takayasu, Takeshi T; Akagi, Kiwamu K; Hinoi, Takao T
Publication Date: 2023-01-16

Variant appearance in text: NOTCH1: R2272H
PubMed Link: 36647049
Variant Present in the following documents:
  • 12920_2022_1403_MOESM1_ESM.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: NOTCH1: R2272H; rs972658026
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: NOTCH1: 6815G>A; R2272H
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NOTCH1: R2272H
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: NOTCH1: R2272H; rs972658026
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: NOTCH1: 6815G>A; Arg2272His
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Blood-Based Surveillance Monitoring of Circulating Tumor DNA From Patients With SCLC Detects Disease Relapse and Predicts Death in Patients With Limited-Stage Disease.

Jto Clinical And Research Reports
Iams, Wade T WT; Kopparapu, Prasad R PR; Yan, Yingjun Y; Muterspaugh, Anel A; Zhao, Zhiguo Z; Chen, Heidi H; Cann, Christopher C; York, Sally S; Horn, Leora L; Ancell, Kristin K; Wyman, Kenneth K; Bertucci, Caterina C; Shaffer, Tristan T; Hodsdon, Lauren A LA; Garg, Kavita K; Hosseini, Seyed Ali SA; Lim, Lee P LP; Lovly, Christine M CM
Publication Date: 2020-06

Variant appearance in text: NOTCH1: R2272H
PubMed Link: 34589931
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: R2272H
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Basturk, Olca O; Tan, Marcus M; Bhanot, Umesh U; Allen, Peter P; Adsay, Volkan V; Scott, Sasinya N SN; Shah, Ronak R; Berger, Michael F MF; Askan, Gokce G; Dikoglu, Esra E; Jobanputra, Vaidehi V; Wrzeszczynski, Kazimierz O KO; Sigel, Carlie C; Iacobuzio-Donahue, Christine C; Klimstra, David S DS
Publication Date: 2016-09

Variant appearance in text: NOTCH1: R2272H
PubMed Link: 27282351
Variant Present in the following documents:
  • Main text
View BVdb publication page