BRCA1 c.5485G>T ;(p.E1829*)

Variant ID: 17-41197802-C-A

NM_007294.3(BRCA1):c.5485G>T;(p.E1829*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 5485G>T; Glu1829X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5485G>T; E1829*
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page



Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Oncotarget
Solano, Angela Rosaria AR; Cardoso, Florencia Cecilia FC; Romano, Vanesa V; Perazzo, Florencia F; Bas, Carlos C; Recondo, Gonzalo G; Santillan, Francisco Bernardo FB; Gonzalez, Eduardo E; Abalo, Eduardo E; Viniegra, María M; Michel, José Davalos JD; Nuñez, Lina María LM; Noblia, Cristina Maria CM; Mc Lean, Ignacio I; Canton, Enrique Diaz ED; Chacon, Reinaldo Daniel RD; Cortese, Gustavo G; Varela, Eduardo Beccar EB; Greco, Martín M; Barrientos, María Laura ML; Avila, Silvia Adela SA; Vuotto, Hector Daniel HD; Lorusso, Antonio A; Podesta, Ernesto Jorge EJ; Mando, Oscar Gaspar OG
Publication Date: 2017-09-01

Variant appearance in text: BRCA1: Glu1829*
PubMed Link: 28947987
Variant Present in the following documents:
  • Main text
  • oncotarget-08-60487.pdf
View BVdb publication page