BRCA1 c.5147_5150del ;(p.Y1716Sfs*3)

Variant ID: 17-41215892-GAAAT-G

NM_007294.3(BRCA1):c.5147_5150del;(p.Y1716Sfs*3)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA1: 5146_5149del
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263.pdf
View BVdb publication page



Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.

Diagnostics (Basel, Switzerland)
Akaev, Iolia I; Rahimi, Siavash S; Onifade, Olubukola O; Gardner, Francis John Edward FJE; Castells-Rufas, David D; Jones, Eleanor E; Acharige, Shyamika S; Yeoh, Chit Cheng CC
Publication Date: 2021-03-19

Variant appearance in text: BRCA1: 5147_5150delATTT
PubMed Link: 33808557
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00547.pdf
View BVdb publication page



Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

The Epma Journal
Janavičius, Ramūnas R
Publication Date: 2010-09

Variant appearance in text: BRCA1: 5146_5149del
PubMed Link: 23199084
Variant Present in the following documents:
  • Main text
  • 13167_2010_Article_37.pdf
View BVdb publication page