BRCA2 c.7411A>T ;(p.T2471S)

Variant ID: 13-32929401-A-T

NM_000059.3(BRCA2):c.7411A>T;(p.T2471S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: T2471S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_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: 7411A>T; Thr2471Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: T2471S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Genomic characteristics of pancreatic squamous cell carcinoma, an investigation by using high throughput sequencing after in-solution hybrid capture.

Oncotarget
Xu, Meng-Dan MD; Liu, Shu-Ling SL; Feng, Yi-Zhong YZ; Liu, Qiang Q; Shen, Meng M; Zhi, Qiaoming Q; Liu, Zeyi Z; Gu, Dong-Mei DM; Yu, Jie J; Shou, Liu-Mei LM; Gong, Fei-Ran FR; Zhu, Qi Q; Duan, Weiming W; Chen, Kai K; Zhang, Junning J; Wu, Meng-Yao MY; Tao, Min M; Li, Wei W
Publication Date: 2017-02-28

Variant appearance in text: BRCA2: Thr2471Ser
PubMed Link: 28099906
Variant Present in the following documents:
  • Main text
  • oncotarget-08-14620.pdf
View BVdb publication page