NOTCH1 c.7355C>T ;(p.A2452V)

Variant ID: 9-139390836-G-A

NM_017617.3(NOTCH1):c.7355C>T;(p.A2452V)

This variant was identified in 4 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: NOTCH1: A2452V; rs746280413
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: NOTCH1: 7355C>T; Ala2452Val; rs746280413
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: NOTCH1: 7355C>T; Ala2452Val; rs746280413
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: NOTCH1: 7355C>T; A2452V
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Frequency and distribution of Notch mutations in tumor cell lines.

Bmc Cancer
Mutvei, Anders Peter AP; Fredlund, Erik E; Lendahl, Urban U
Publication Date: 2015-04-25

Variant appearance in text: NOTCH1: 7355C>T; A2452V
PubMed Link: 25907971
Variant Present in the following documents:
  • 12885_2015_1278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page