MSH2 c.91A>G ;(p.T31A)

Variant ID: 2-47630421-A-G

NM_000251.2(MSH2):c.91A>G;(p.T31A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 91A>G; Thr31Ala
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica
Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-08-01

Variant appearance in text: MSH2: T31A
PubMed Link: 34788985
Variant Present in the following documents:
  • 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx, sheet 1
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: T31A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page