BRCA1 c.4417T>G ;(p.S1473A)

Variant ID: 17-41228572-A-C

NM_007294.3(BRCA1):c.4417T>G;(p.S1473A)

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: S1473A
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: 4417T>G; Ser1473Ala
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: S1473A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Heregulin-dependent delay in mitotic progression requires HER4 and BRCA1.

Molecular And Cellular Biology
Muraoka-Cook, Rebecca S RS; Caskey, Laura S LS; Sandahl, Melissa A MA; Hunter, Debra M DM; Husted, Carty C; Strunk, Karen E KE; Sartor, Carolyn I CI; Rearick, William A WA; McCall, Wesley W; Sgagias, Magdalene K MK; Cowan, Kenneth H KH; Earp, H Shelton HS
Publication Date: 2006-09

Variant appearance in text: BRCA1: S1473A
PubMed Link: 16914727
Variant Present in the following documents:
  • Main text
View BVdb publication page