BRCA1 c.3115G>T ;(p.A1039S)

Variant ID: 17-41244433-C-A

NM_007294.3(BRCA1):c.3115G>T;(p.A1039S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: BRCA1: A1039S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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: BRCA1: 3115G>T; Ala1039Ser
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: BRCA1: A1039S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

International Journal Of Medical Sciences
Laraqui, Abdelilah A; Uhrhammer, Nancy N; Lahlou-Amine, Idriss I; El Rhaffouli, Hicham H; El Baghdadi, Jamila J; Dehayni, Mohamed M; Moussaoui, Rahali Driss RD; Ichou, Mohamed M; Sbitti, Yassir Y; Al Bouzidi, Abderrahman A; Amzazi, Said S; Bignon, Yves-Jean YJ
Publication Date: 2013

Variant appearance in text: BRCA1: 3115G>T; Ala1039Ser
PubMed Link: 23289006
Variant Present in the following documents:
  • Main text
  • ijmsv10p0060.pdf
View BVdb publication page