BRCA1 c.1192T>G ;(p.S398A)

Variant ID: 17-41246356-A-C

NM_007294.3(BRCA1):c.1192T>G;(p.S398A)

This variant was identified in 5 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: S398A
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: 1192T>G; Ser398Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PTEN Methylation by NSD2 Controls Cellular Sensitivity to DNA Damage.

Cancer Discovery
Zhang, Jinfang J; Lee, Yu-Ru YR; Dang, Fabin F; Gan, Wenjian W; Menon, Archita Venugopal AV; Katon, Jesse M JM; Hsu, Chih-Hung CH; Asara, John M JM; Tibarewal, Priyanka P; Leslie, Nicholas R NR; Shi, Yang Y; Pandolfi, Pier Paolo PP; Wei, Wenyi W
Publication Date: 2019-09

Variant appearance in text: BRCA1: S398A
PubMed Link: 31217297
Variant Present in the following documents:
  • Main text
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: S398A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Nuclear PTEN controls DNA repair and sensitivity to genotoxic stress.

Science (New York, N.Y.)
Bassi, C C; Ho, J J; Srikumar, T T; Dowling, R J O RJ; Gorrini, C C; Miller, S J SJ; Mak, T W TW; Neel, B G BG; Raught, B B; Stambolic, V V
Publication Date: 2013-07-26

Variant appearance in text: BRCA1: S398A
PubMed Link: 23888040
Variant Present in the following documents:
  • Main text
View BVdb publication page