CDH1 c.1315G>A ;(p.A439T)

Variant ID: 16-68847393-G-A

NM_004360.3(CDH1):c.1315G>A;(p.A439T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.

Jama Oncology
Stuttgen, Kelsey K; Croessmann, Sarah S; Fetting, John J; Stearns, Vered V; Nunes, Raquel R; Connolly, Roisin M RM; Park, Ben Ho BH
Publication Date: 2019-10-01

Variant appearance in text: CDH1: 1315G>A; Ala439Thr
PubMed Link: 31465090
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Oncotarget
Busch, Evan L EL; Hornick, Jason L JL; Umeton, Renato R; Albayrak, Adem A; Lindeman, Neal I NI; MacConaill, Laura E LE; Garcia, Elizabeth P EP; Ducar, Matthew M; Rebbeck, Timothy R TR
Publication Date: 2017-10-17

Variant appearance in text: CDH1: 1315G>A; A439T
PubMed Link: 29156750
Variant Present in the following documents:
  • oncotarget-08-85680-s002.xlsx, sheet 1
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: CDH1: 1315G>A; Ala439Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page