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BRCA2 c.2550A>G ;(p.Q850=)
Variant ID: 13-32911042-A-G
NM_000059.3(
BRCA2
):c.2550A>G;(p.Q850=)
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: 2550A>G
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
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: BRCA2: 2550A>G; Gln850=; rs80359785
PubMed Link:
35534218
Variant Present in the following documents:
icu-63-294-s001.xls, sheet 1
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: BRCA2: 2550A>G; Q850Q; rs80359785
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.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: BRCA2: 2550A>G; Gln850=
PubMed Link:
33078592
Variant Present in the following documents:
Main text
jgo-31-e83-s009.xls, sheet 1
jgo-31-e83-s007.xls, sheet 1
jgo-31-e83.pdf
jgo-31-e83-s008.xls, 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: 2550A>G
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: BRCA2: 2550A>G; Gln850Gln; rs80359785
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
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: 2550A>G; Gln850=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page