MLH1 c.2265G>T ;(p.R755S)

Variant ID: 3-37092138-G-T

NM_000249.3(MLH1):c.2265G>T;(p.R755S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: MLH1: 2265G>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020

Variant appearance in text: MLH1: 2265G>T; Arg755Ser
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV
Publication Date: 2013-01

Variant appearance in text: MLH1: Arg755Ser
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Human Mutation
Kosinski, Jan J; Hinrichsen, Inga I; Bujnicki, Janusz M JM; Friedhoff, Peter P; Plotz, Guido G
Publication Date: 2010-08

Variant appearance in text: MLH1: 2265G>T; Arg755Ser
PubMed Link: 20533529
Variant Present in the following documents:
  • Main text
View BVdb publication page