BRCA2 c.8487+8G>A

Variant ID: 13-32944702-G-A

NM_000059.3(BRCA2):c.8487+8G>A

This variant was identified in 4 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: 8487+8G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-8.xlsx, sheet 1
  • media-10.xlsx, sheet 1
View BVdb publication page



Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports
Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE
Publication Date: 2022-11-03

Variant appearance in text: BRCA2: 8487+8G>A; rs81002838
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1
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: 8487+8G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Human Mutation
Whiley, Phillip J PJ; Guidugli, Lucia L; Walker, Logan C LC; Healey, Sue S; Thompson, Bryony A BA; Lakhani, Sunil R SR; Da Silva, Leonard M LM; , ; Tavtigian, Sean V SV; Goldgar, David E DE; Brown, Melissa A MA; Couch, Fergus J FJ; Spurdle, Amanda B AB
Publication Date: 2011-06

Variant appearance in text: BRCA2: 8487+8G>A
PubMed Link: 21394826
Variant Present in the following documents:
  • Main text
View BVdb publication page