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BRCA2 c.1167G>A ;(p.P389=)
Variant ID: 13-32906782-G-A
NM_000059.3(
BRCA2
):c.1167G>A;(p.P389=)
This variant was identified in 7 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: BRCA2: 1167G>A
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s009.xlsx, sheet 2
IJC-152-1159-s006.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04
Variant appearance in text: N/A
PubMed Link:
35218119
Variant Present in the following documents:
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: BRCA2: P389P
PubMed Link:
33691754
Variant Present in the following documents:
13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
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: BRCA2: 1167G>A
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: BRCA2: 1167G>A; Pro389=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015
Variant appearance in text: BRCA2: 1167G>A
PubMed Link:
26496393
Variant Present in the following documents:
pone.0140684.s004.xlsx, sheet 5
View BVdb publication page
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
Bmc Medical Genetics
Stegel, Vida V; Krajc, Mateja M; Zgajnar, Janez J; Teugels, Erik E; De Grève, Jacques J; Hočevar, Marko M; Novaković, Srdjan S
Publication Date: 2011-01-14
Variant appearance in text: BRCA2: 1167G>A; P389P
PubMed Link:
21232165
Variant Present in the following documents:
Main text
1471-2350-12-9.pdf
View BVdb publication page