BRCA2 c.3215T>G ;(p.L1072*)

Variant ID: 13-32911707-T-G

NM_000059.3(BRCA2):c.3215T>G;(p.L1072*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 3215T>G; L1072*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 3215T>G; Leu1072X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.

Cancer
Maynard, Hannah H; Stadler, Zsofia K ZK; Berger, Michael F MF; Solit, David B DB; Ly, Michele M; Lowery, Maeve A MA; Mandelker, Diana D; Zhang, Liying L; Jordan, Emmett E; El Dika, Imane I; Kemel, Yelena Y; Ladanyi, Marc M; Robson, Mark E ME; O'Reilly, Eileen M EM; Abou-Alfa, Ghassan K GK
Publication Date: 2020-01-01

Variant appearance in text: BRCA2: 3215T>G; Leu1072*
PubMed Link: 32012241
Variant Present in the following documents:
  • Main text
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: 3215T>G; Leu1072X
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
View BVdb publication page