NOTCH1 c.6481C>T ;(p.P2161S)

Variant ID: 9-139391710-G-A

NM_017617.3(NOTCH1):c.6481C>T;(p.P2161S)

This variant was identified in 6 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: P2161S; rs201518848
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 6481C>T; Pro2161Ser; rs201518848
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring MET exon 14 mutation: a research report.

Cold Spring Harbor Molecular Case Studies
Roth, Katherine G KG; Mambetsariev, Isa I; Salgia, Ravi R
Publication Date: 2020-12

Variant appearance in text: NOTCH1: 6481C>T; Pro2161Ser; rs201518848
PubMed Link: 33335011
Variant Present in the following documents:
  • Main text
  • MCS005785Rot.pdf
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: NOTCH1: 6481C>T; Pro2161Ser; rs201518848
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
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: NOTCH1: P2161S
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

Bmc Medical Genomics
Bonachea, Elizabeth M EM; Zender, Gloria G; White, Peter P; Corsmeier, Don D; Newsom, David D; Fitzgerald-Butt, Sara S; Garg, Vidu V; McBride, Kim L KL
Publication Date: 2014-09-26

Variant appearance in text: NOTCH1: P2161S; rs201518848
PubMed Link: 25260786
Variant Present in the following documents:
  • Main text
  • 1755-8794-7-56.pdf
View BVdb publication page