BRCA1 c.5125G>T ;(p.G1709*)

Variant ID: 17-41215918-C-A

NM_007294.3(BRCA1):c.5125G>T;(p.G1709*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single-cell analysis of human primary prostate cancer reveals the heterogeneity of tumor-associated epithelial cell states.

Nature Communications
Song, Hanbing H; Weinstein, Hannah N W HNW; Allegakoen, Paul P; Wadsworth, Marc H MH; Xie, Jamie J; Yang, Heiko H; Castro, Ethan A EA; Lu, Kevin L KL; Stohr, Bradley A BA; Feng, Felix Y FY; Carroll, Peter R PR; Wang, Bruce B; Cooperberg, Matthew R MR; Shalek, Alex K AK; Huang, Franklin W FW
Publication Date: 2022-01-10

Variant appearance in text: BRCA1: 5125G>T
PubMed Link: 35013146
Variant Present in the following documents:
  • 41467_2021_27322_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



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: 5125G>T; Gly1709X
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: 5125G>T; G1709*
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page