BRCA2 c.516+21A>T

Variant ID: 13-32900440-A-T

NM_000059.3(BRCA2):c.516+21A>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 516+21A>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-8.xlsx, sheet 1
  • media-10.xlsx, sheet 1
View BVdb publication page



Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA2: 516+21A>T; rs11571622
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases
Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M
Publication Date: 2019-09

Variant appearance in text: BRCA2: 516+21A>T; rs11571622
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutations in early onset luminal breast cancer.

Oncotarget
Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA
Publication Date: 2018-04-27

Variant appearance in text: BRCA2: 516+21A>T; rs11571622
PubMed Link: 29854292
Variant Present in the following documents:
  • oncotarget-09-22460-s002.xlsx, sheet 3
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA2: 516+21A>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page