BRCA1 c.4422T>C ;(p.A1474=)

Variant ID: 17-41228567-A-G

NM_007294.3(BRCA1):c.4422T>C;(p.A1474=)

This variant was identified in 8 publications

View GRCh38 version.




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: 4422T>C
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology
So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH
Publication Date: 2022-05

Variant appearance in text: rs756281673
PubMed Link: 35534218
Variant Present in the following documents:
  • icu-63-294-s001.xls, sheet 1
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: A1474A
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology
Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC
Publication Date: 2020-11

Variant appearance in text: BRCA1: 4422T>C; Ala1474=
PubMed Link: 33078592
Variant Present in the following documents:
  • Main text
  • jgo-31-e83-s007.xls, sheet 1
  • jgo-31-e83.pdf
  • jgo-31-e83-s008.xls, sheet 1
  • jgo-31-e83-s009.xls, sheet 1
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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA1: 4422T>C
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 4422T>C; Ala1474Ala; rs756281673
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Oncotarget
Shin, Saeam S; Kim, Yoonjung Y; Chul Oh, Seoung S; Yu, Nae N; Lee, Seung-Tae ST; Rak Choi, Jong J; Lee, Kyung-A KA
Publication Date: 2017-05-23

Variant appearance in text: BRCA1: 4422T>C; Ala1474=
PubMed Link: 28422718
Variant Present in the following documents:
  • oncotarget-08-34858-s002.xlsx, sheet 1
View BVdb publication page



Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Publication Date: 2017-10

Variant appearance in text: BRCA1: 4422T>C; Ala1474=; rs756281673
PubMed Link: 28111427
Variant Present in the following documents:
  • crt-2016-433-supple1.xlsx, sheet 1
  • crt-2016-433.pdf
View BVdb publication page