MSH2 c.289C>A ;(p.Q97K)

Variant ID: 2-47635617-C-A

NM_000251.2(MSH2):c.289C>A;(p.Q97K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Bintrafusp alfa, an anti-PD-L1:TGF-β trap fusion protein, in patients with ctDNA-positive, liver-limited metastatic colorectal cancer.

Cancer Research Communications
Morris, Van K VK; Overman, Michael J MJ; Lam, Michael M; Parseghian, Christine M CM; Johnson, Benny B; Dasari, Arvind A; Raghav, Kanwal K; Kee, Bryan K BK; Huey, Ryan R; Wolff, Robert A RA; Shen, John Paul JP; Li, June J; Zorrilla, Isabel I; Tzeng, Ching-Wei D CD; Tran Cao, Hop S HS; Chun, Yun Shin YS; Newhook, Timothy E TE; Vauthey, Nicolas N; Duose, Dzifa D; Luthra, Raja R; Haymaker, Cara C; Kopetz, Scott S
Publication Date: 2022-09

Variant appearance in text: MSH2: Q97K
PubMed Link: 36382087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 289C>A; Q97K
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q97K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page