BRCA2 c.1039C>T ;(p.Q347*)

Variant ID: 13-32906654-C-T

NM_000059.3(BRCA2):c.1039C>T;(p.Q347*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: BRCA2: 1039C>T; Gln347Ter
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 1
  • LSA-2021-01319_TableS5.xlsx, sheet 1
  • LSA-2021-01319_TableS1.xlsx, sheet 1
View BVdb publication page



Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.

Scientific Reports
Gilson, Pauline P; Levy, Julien J; Rouyer, Marie M; Demange, Jessica J; Husson, Marie M; Bonnet, Céline C; Salleron, Julia J; Leroux, Agnès A; Merlin, Jean-Louis JL; Harlé, Alexandre A
Publication Date: 2020-10-02

Variant appearance in text: BRCA2: 1039C>T
PubMed Link: 33009475
Variant Present in the following documents:
  • 41598_2020_73421_MOESM1_ESM.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: 1039C>T; Gln347X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2019-12-31

Variant appearance in text: BRCA2: 1039C>T
PubMed Link: 31892343
Variant Present in the following documents:
  • Main text
  • 13073_2019_691_MOESM1_ESM.pdf
  • 13073_2019_Article_691.pdf
View BVdb publication page