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BRCA2 c.2368del ;(p.E790Nfs*20)
Variant ID: 13-32910860-AG-A
NM_000059.3(
BRCA2
):c.2368del;(p.E790Nfs*20)
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: BRCA2: 2368del
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s005.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Jama Oncology
Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2022-06-01
Variant appearance in text: BRCA2: 2368delG; Glu790fs
PubMed Link:
35420638
Variant Present in the following documents:
jamaoncol-e220476-s001.pdf
View BVdb publication page
Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
Cancer Science
Nakagomi, Hiroshi H; Mochizuki, Hitoshi H; Inoue, Masayuki M; Hirotsu, Yosuke Y; Amemiya, Kenji K; Sakamoto, Ikuko I; Nakagomi, Satoko S; Kubota, Takeo T; Omata, Masao M
Publication Date: 2018-02
Variant appearance in text: BRCA2: 2368_2368delG; Glu790fs
PubMed Link:
29215753
Variant Present in the following documents:
Main text
CAS-109-453.pdf
View BVdb publication page