Variant ID: 13-32915033-G-T

NM_000059.3(BRCA2):c.6541G>T;(p.Gly2181*)

This variant was identified in 3 publications




Publications:


Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Journal Of Medical Genetics
WX Wen, J Allen, KN Lai, S Mariapun, SN Hasan, PS Ng, DS Lee, SY Lee, SY Yoon, J Lim, SY Lau, B Decker, K Pooley, L Dorling, C Luccarini, C Baynes, DM Conroy, P Harrington, J Simard, CH Yip, NA Mohd Taib, WK Ho, AC Antoniou, AM Dunning, DF Easton, SH Teo
Publication Date: 2018-02

Variant appearance in text: BRCA2: 6541G>T; G2181*
PubMed Link: 28993434
Variant Present in the following documents:
  • jmedgenet-2017-104947supp001.pdf
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: BRCA2: Gly2181*; rs371067421
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics
A Kwong, VY Shin, JC Ho, E Kang, S Nakamura, SH Teo, AS Lee, JH Sng, OM Ginsburg, AW Kurian, JN Weitzel, MT Siu, FB Law, TL Chan, SA Narod, JM Ford, ES Ma, SW Kim
Publication Date: 2016-01

Variant appearance in text: BRCA2: 6541G>T; Gly2181*
PubMed Link: 26187060
Variant Present in the following documents:
  • NIHMS721868-supplement-Data_supplement_1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000380152.3 c.6541G>T p.Gly2181* stop_gained 11/27 -
ENST00000544455.1 c.6541G>T p.Gly2181* stop_gained 11/28 -
NM_000059.3 c.6541G>T p.Gly2181* stop_gained 11/27 -