BRCA1 c.5534del ;(p.Y1845Sfs*10)

Variant ID: 17-41197753-GT-G

NM_007294.3(BRCA1):c.5534del;(p.Y1845Sfs*10)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA1: 5534delA; Y1845Sfs
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS2.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 5534delA; Tyr1845Serfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132.

Cancers
Møller, Pål P; Dominguez-Valentin, Mev M; Rødland, Einar Andreas EA; Hovig, Eivind E
Publication Date: 2020-02-10

Variant appearance in text: BRCA1: 5534delA
PubMed Link: 32050665
Variant Present in the following documents:
  • cancers-12-00410.pdf
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA1: 5534delA
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Hereditary Cancer In Clinical Practice
Heramb, Cecilie C; Wangensteen, Teresia T; Grindedal, Eli Marie EM; Ariansen, Sarah Louise SL; Lothe, Sheba S; Heimdal, Ketil Riddervold KR; Mæhle, Lovise L
Publication Date: 2018

Variant appearance in text: BRCA1: 5534del
PubMed Link: 29339979
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_85.pdf
View BVdb publication page