PALB2 c.2742C>T ;(p.F914=)

Variant ID: 16-23637563-G-A

NM_024675.3(PALB2):c.2742C>T;(p.F914=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: PALB2: 2742C>T; F914F; rs115759702
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PALB2: 2742C>T; Phe914=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19

Variant appearance in text: rs115759702
PubMed Link: 26283626
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_627.pdf
View BVdb publication page