BRCA2 c.5148T>G ;(p.Y1716*)

Variant ID: 13-32913640-T-G

NM_000059.3(BRCA2):c.5148T>G;(p.Y1716*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 5148T>G; Tyr1716Ter
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.pdf
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: 5148T>G; Tyr1716X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer
Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI
Publication Date: 2018-10

Variant appearance in text: BRCA2: 5148T>G
PubMed Link: 28918466
Variant Present in the following documents:
  • Main text
View BVdb publication page