BRCA1 c.5332+3A>G

Variant ID: 17-41203077-T-C

NM_007294.3(BRCA1):c.5332+3A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 5332+3A>G; rs766614917
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 5332+3A>G
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.

The Journal Of Clinical Investigation
Ho, Allen S AS; Ochoa, Angelica A; Jayakumaran, Gowtham G; Zehir, Ahmet A; Valero Mayor, Cristina C; Tepe, Justin J; Makarov, Vladimir V; Dalin, Martin G MG; He, Jie J; Bailey, Mark M; Montesion, Meagan M; Ross, Jeffrey S JS; Miller, Vincent A VA; Chan, Lindsay L; Ganly, Ian I; Dogan, Snjezana S; Katabi, Nora N; Tsipouras, Petros P; Ha, Patrick P; Agrawal, Nishant N; Solit, David B DB; Futreal, P Andrew PA; El Naggar, Adel K AK; Reis-Filho, Jorge S JS; Weigelt, Britta B; Ho, Alan L AL; Schultz, Nikolaus N; Chan, Timothy A TA; Morris, Luc Gt LG
Publication Date: 2019-10-01

Variant appearance in text: BRCA1: 5332+3A>G
PubMed Link: 31483290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA1: 5332+3A>G
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5332+3A>G
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page