BRCA2 c.658G>A ;(p.V220I)

Variant ID: 13-32903606-G-A

NM_000059.3(BRCA2):c.658G>A;(p.V220I)

This variant was identified in 9 publications

View GRCh38 version.




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: 658G>A; Val220Ile
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.

Scientific Reports
Martinez-Monleon, Angela A; Kryh Öberg, Hanna H; Gaarder, Jennie J; Berbegall, Ana P AP; Javanmardi, Niloufar N; Djos, Anna A; Ussowicz, Marek M; Taschner-Mandl, Sabine S; Ambros, Inge M IM; Øra, Ingrid I; Sandstedt, Bengt B; Beiske, Klaus K; Ladenstein, Ruth R; Noguera, Rosa R; Ambros, Peter F PF; Gordon Murkes, Lena L; Ljungman, Gustaf G; Kogner, Per P; Fransson, Susanne S; Martinsson, Tommy T
Publication Date: 2022-07-20

Variant appearance in text: BRCA2: 658G>A; V220I
PubMed Link: 35859155
Variant Present in the following documents:
  • 41598_2022_16455_MOESM2_ESM.xlsx, sheet 4
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: V220I
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: BRCA2: Val220Ile
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: V220I
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: 658G>A; Val220Ile
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: V220I
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics
Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A
Publication Date: 2017-02-15

Variant appearance in text: BRCA2: V220I
PubMed Link: 28202063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer.

Oncotarget
Chao, Angel A; Chang, Ting-Chang TC; Lapke, Nina N; Jung, Shih-Ming SM; Chi, Peter P; Chen, Chien-Hung CH; Yang, Lan-Yan LY; Lin, Cheng-Tao CT; Huang, Huei-Jean HJ; Chou, Hung-Hsueh HH; Liou, Jui-Der JD; Chen, Shu-Jen SJ; Wang, Tzu-Hao TH; Lai, Chyong-Huey CH
Publication Date: 2016-12-20

Variant appearance in text: BRCA2: 658G>A; V220I
PubMed Link: 27907908
Variant Present in the following documents:
  • oncotarget-07-85529-s001.pdf
View BVdb publication page