PALB2 c.1935G>A ;(p.E645=)

Variant ID: 16-23641540-C-T

NM_024675.3(PALB2):c.1935G>A;(p.E645=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: PALB2: 1935G>A; Glu645=; rs141707455
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
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: 1935G>A; Glu645=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Breast Cancer Research : Bcr
Teo, Zhi L ZL; Park, Daniel J DJ; Provenzano, Elena E; Chatfield, Catherine A CA; Odefrey, Fabrice A FA; Nguyen-Dumont, Tu T; , ; Dowty, James G JG; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Southey, Melissa C MC
Publication Date: 2013-02-28

Variant appearance in text: PALB2: 1935G>A; Glu645Glu; rs141707455
PubMed Link: 23448497
Variant Present in the following documents:
  • Main text
  • bcr3392.pdf
View BVdb publication page