BRCA2 c.6366G>C ;(p.M2122I)

Variant ID: 13-32914858-G-C

NM_000059.3(BRCA2):c.6366G>C;(p.M2122I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRCA2: M2122I
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



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: M2122I
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA2: M2122I
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma.

Translational Oncology
Trilla-Fuertes, Lucía L; Ghanem, Ismael I; Maurel, Joan J; G-Pastrián, Laura L; Mendiola, Marta M; Peña, Cristina C; López-Vacas, Rocío R; Prado-Vázquez, Guillermo G; López-Camacho, Elena E; Zapater-Moros, Andrea A; Heredia, Victoria V; Cuatrecasas, Miriam M; García-Alfonso, Pilar P; Capdevila, Jaume J; Conill, Carles C; García-Carbonero, Rocío R; Heath, Karen E KE; Ramos-Ruiz, Ricardo R; Llorens, Carlos C; Campos-Barros, Ángel Á; Gámez-Pozo, Angelo A; Feliu, Jaime J; Vara, Juan Ángel Fresno JÁF
Publication Date: 2020-07

Variant appearance in text: BRCA2: Met2122Ile
PubMed Link: 32422573
Variant Present in the following documents:
  • Main text
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: 6366G>C; Met2122Ile
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: M2122I
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page