PALB2 c.3350+4A>C

Variant ID: 16-23619181-T-G

NM_024675.3(PALB2):c.3350+4A>C

This variant was identified in 3 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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open
Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E
Publication Date: 2019-10-02

Variant appearance in text: PALB2: 3350+4A>C
PubMed Link: 31642931
Variant Present in the following documents:
  • jamanetwopen-2-e1913900-s001.pdf
View BVdb publication page



Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.

Journal Of Medical Genetics
Lopez-Perolio, Irene I; Leman, Raphaël R; Behar, Raquel R; Lattimore, Vanessa V; Pearson, John F JF; Castéra, Laurent L; Martins, Alexandra A; Vaur, Dominique D; Goardon, Nicolas N; Davy, Grégoire G; Garre, Pilar P; García-Barberán, Vanesa V; Llovet, Patricia P; Pérez-Segura, Pedro P; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Hruska, Kathleen S KS; Hsuan, Vickie V; Wu, Sitao S; Pesaran, Tina T; Karam, Rachid R; Vallon-Christersson, Johan J; Borg, Ake A; , ; Valenzuela-Palomo, Alberto A; Velasco, Eladio A EA; Southey, Melissa M; Vreeswijk, Maaike P G MPG; Devilee, Peter P; Kvist, Anders A; Spurdle, Amanda B AB; Walker, Logan C LC; Krieger, Sophie S; de la Hoya, Miguel M
Publication Date: 2019-07

Variant appearance in text: PALB2: 3350+4A>C
PubMed Link: 30890586
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105834.pdf
View BVdb publication page