BRCA1 c.4658del ;(p.L1553Cfs*6)

Variant ID: 17-41226364-CA-C

NM_007294.3(BRCA1):c.4658del;(p.L1553Cfs*6)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 4658del; Leu1553Cysfs*6
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s011.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s010.xlsx, sheet 4
View BVdb publication page


Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Bmc Cancer
Azribi, Fathi F; Abdou, Ehab E; Dawoud, Emad E; Ashour, Mohamed M; Kamal, Amgad A; Al Sayed, Mohamed M; Burney, Ikram I
Publication Date: 2021-12-20

Variant appearance in text: BRCA1: 4658del; Leu1553Cysfs*6
PubMed Link: 34930165
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_9094.pdf
View BVdb publication page


Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Bmc Cancer
Azribi, Fathi F; Abdou, Ehab E; Dawoud, Emad E; Ashour, Mohamed M; Kamal, Amgad A; Al Sayed, Mohamed M; Burney, Ikram I
Publication Date: 2021-12-20

Variant appearance in text: BRCA1: 4658del; Leu1553Cysfs*6
PubMed Link: 34930165
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_9094.pdf
View BVdb publication page


Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.

Cancer Management And Research
Ashour, Mohamed M; Ezzat Shafik, Hanan H
Publication Date: 2019

Variant appearance in text: BRCA1: 4658del; Leu1553Cysfs*6
PubMed Link: 31372034
Variant Present in the following documents:
  • Main text
  • cmar-11-6275.pdf
View BVdb publication page