BRCA1 c.4489T>G ;(p.S1497A)

Variant ID: 17-41226534-A-C

NM_007294.3(BRCA1):c.4489T>G;(p.S1497A)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports
Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2022-09-28

Variant appearance in text: BRCA1: S1497A
PubMed Link: 36171434
Variant Present in the following documents:
  • 41598_2022_20500_MOESM1_ESM.pdf
View BVdb publication page



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: S1497A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
Publication Date: 2022-06-03

Variant appearance in text: BRCA1: S1497A
PubMed Link: 35665744
Variant Present in the following documents:
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Variomes: a high recall search engine to support the curation of genomic variants.

Bioinformatics (Oxford, England)
Pasche, Emilie E; Mottaz, Anaïs A; Caucheteur, Déborah D; Gobeill, Julien J; Michel, Pierre-André PA; Ruch, Patrick P
Publication Date: 2022-04-28

Variant appearance in text: BRCA1: S1497A
PubMed Link: 35274687
Variant Present in the following documents:
  • Main text
  • btac146.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: BRCA1: 4489T>G; Ser1497Ala
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: S1497A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06

Variant appearance in text: BRCA1: Ser1497Ala
PubMed Link: 28166811
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_403.pdf
View BVdb publication page



A guide for functional analysis of BRCA1 variants of uncertain significance.

Human Mutation
Millot, Gaël A GA; Carvalho, Marcelo A MA; Caputo, Sandrine M SM; Vreeswijk, Maaike P G MP; Brown, Melissa A MA; Webb, Michelle M; Rouleau, Etienne E; Neuhausen, Susan L SL; Hansen, Thomas v O Tv; Galli, Alvaro A; Brandão, Rita D RD; Blok, Marinus J MJ; Velkova, Aneliya A; Couch, Fergus J FJ; Monteiro, Alvaro N A AN; ,
Publication Date: 2012-11

Variant appearance in text: BRCA1: Ser1497Ala
PubMed Link: 22753008
Variant Present in the following documents:
  • Main text
View BVdb publication page



Compromised CDK1 activity sensitizes BRCA-proficient cancers to PARP inhibition.

Nature Medicine
Johnson, Neil N; Li, Yu-Chen YC; Walton, Zandra E ZE; Cheng, Katherine A KA; Li, Danan D; Rodig, Scott J SJ; Moreau, Lisa A LA; Unitt, Christine C; Bronson, Roderick T RT; Thomas, Huw D HD; Newell, David R DR; D'Andrea, Alan D AD; Curtin, Nicola J NJ; Wong, Kwok-Kin KK; Shapiro, Geoffrey I GI
Publication Date: 2011-06-26

Variant appearance in text: BRCA1: S1497A
PubMed Link: 21706030
Variant Present in the following documents:
  • Main text
  • nihms288730.pdf
View BVdb publication page



Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

The Journal Of Clinical Investigation
Chang, Suhwan S; Biswas, Kajal K; Martin, Betty K BK; Stauffer, Stacey S; Sharan, Shyam K SK
Publication Date: 2009-10

Variant appearance in text: BRCA1: S1497A
PubMed Link: 19770520
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breast cancer gene variants: separating the harmful from the harmless.

The Journal Of Clinical Investigation
Domchek, Susan M SM; Greenberg, Roger A RA
Publication Date: 2009-10

Variant appearance in text: BRCA1: S1497A
PubMed Link: 19770511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cdk1 participates in BRCA1-dependent S phase checkpoint control in response to DNA damage.

Molecular Cell
Johnson, Neil N; Cai, Dongpo D; Kennedy, Richard D RD; Pathania, Shailja S; Arora, Mansi M; Li, Yu-Chen YC; D'Andrea, Alan D AD; Parvin, Jeffrey D JD; Shapiro, Geoffrey I GI
Publication Date: 2009-08-14

Variant appearance in text: BRCA1: S1497A
PubMed Link: 19683496
Variant Present in the following documents:
  • Main text
View BVdb publication page