BRCA1 c.1384G>C ;(p.G462R)

Variant ID: 17-41246164-C-G

NM_007294.3(BRCA1):c.1384G>C;(p.G462R)

This variant was identified in 9 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: G462R
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Publication Date: 2021

Variant appearance in text: BRCA1: G462R
PubMed Link: 34855882
Variant Present in the following documents:
  • Main text
  • pone.0260852.pdf
View BVdb publication page



Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.

Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Publication Date: 2021

Variant appearance in text: BRCA1: G462R
PubMed Link: 34855882
Variant Present in the following documents:
  • Main text
  • pone.0260852.pdf
View BVdb publication page



Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09

Variant appearance in text: BRCA1: Gly462Arg
PubMed Link: 34749799
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_976.pdf
  • 13073_2021_976_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: BRCA1: 1384G>C; Gly462Arg
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: G462R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: BRCA1: G462R
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Publication Date: 2015-12-22

Variant appearance in text: BRCA1: G462R
PubMed Link: 26689913
Variant Present in the following documents:
  • ncomms10086-s1.pdf
  • ncomms10086.pdf
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: BRCA1: G462R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Understanding missense mutations in the BRCA1 gene: an evolutionary approach.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fleming, Melissa A MA; Potter, John D JD; Ramirez, Christina J CJ; Ostrander, Gary K GK; Ostrander, Elaine A EA
Publication Date: 2003-02-04

Variant appearance in text: BRCA1: G462R
PubMed Link: 12531920
Variant Present in the following documents:
  • Main text
View BVdb publication page