BRCA1 c.5156del ;(p.V1719Gfs*11)

Variant ID: 17-41215387-CA-C

NM_007294.3(BRCA1):c.5156del;(p.V1719Gfs*11)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 5156del; Val1719fs; rs1057517590
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5156del; Val1719fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 5156del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



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: 5156del; Val1719Glyfs*11; rs1057517590
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



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 5156delT; Val1719Glyfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Oncology Letters
Wei, Hongyi H; Wang, Minghao M; Ou, Jianghua J; Jiang, Weihua W; Tian, Fuguo F; Sheng, Yuan Y; Li, Hengyu H; Xu, Hong H; Zhang, Ruishan R; Guan, Aihua A; Wang, Changqing C; Jiang, Hongchuan H; Ren, Yu Y; He, Jianjun J; Liu, Jian J; Huang, Weiwei W; Liao, Ning N; Cai, Xiangjun X; Ming, Jia J; Ling, Rui R; Xu, Yan Y; Hu, Chunyan C; Zhang, Jianguo J; Guo, Baoliang B; Ouyang, Lizhi L; Shuai, Ping P; Liu, Zhenzhen Z; Zhong, Ling L; Jing, Ruilin R; Zeng, Zhen Z; Zhang, Meng M; Zhang, Ting T; Xuan, Zhaoling Z; Tan, Xuanni X; Liang, Junbin J; Pan, Qinwen Q; Chen, Li L; Zhang, Fan F; Fan, Linjun L; Zhang, Yi Y; Yang, Xinhua X; Li, Jingbo J; Chen, Chongjian C; Jiang, Jun J
Publication Date: 2018-06

Variant appearance in text: BRCA1: 5156del; Val1719fs
PubMed Link: 29805665
Variant Present in the following documents:
  • Main text
View BVdb publication page