BRCA1 c.4269C>A ;(p.S1423R)

Variant ID: 17-41234509-G-T

NM_007294.3(BRCA1):c.4269C>A;(p.S1423R)

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: S1423R
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: 4269C>A; Ser1423Arg
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: S1423R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

Molecular And Clinical Oncology
Balabanski, Lubomir L; Antov, Georgi G; Dimova, Ivanka I; Ivanov, Samuil S; Nacheva, Maria M; Gavrilov, Ivan I; Nesheva, Desislava D; Rukova, Blaga B; Hadjidekova, Savina S; Malinov, Maxim M; Toncheva, Draga D
Publication Date: 2014-05

Variant appearance in text: BRCA1: Ser1423Arg
PubMed Link: 24772314
Variant Present in the following documents:
  • Main text
View BVdb publication page