MLH1 c.882C>T ;(p.L294=)

Variant ID: 3-37059088-C-T

NM_000249.3(MLH1):c.882C>T;(p.L294=)

This variant was identified in 10 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: 882C>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 882C>T; Leu294=
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer.

Scientific Reports
Dedeurwaerdere, Franceska F; Claes, Kathleen Bm KB; Van Dorpe, Jo J; Rottiers, Isabelle I; Van der Meulen, Joni J; Breyne, Joke J; Swaerts, Koen K; Martens, Geert G
Publication Date: 2021-06-18

Variant appearance in text: MLH1: 882C>T
PubMed Link: 34145315
Variant Present in the following documents:
  • 41598_2021_Article_91974.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MLH1: 882C>T; L294L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: 882C>T; Leu294=
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.

Genome Research
Edmonson, Michael N MN; Patel, Aman N AN; Hedges, Dale J DJ; Wang, Zhaoming Z; Rampersaud, Evadnie E; Kesserwan, Chimene A CA; Zhou, Xin X; Liu, Yanling Y; Newman, Scott S; Rusch, Michael C MC; McLeod, Clay L CL; Wilkinson, Mark R MR; Rice, Stephen V SV; Soussi, Thierry T; Taylor, J Paul JP; Benatar, Michael M; Becksfort, Jared B JB; Nichols, Kim E KE; Robison, Leslie L LL; Downing, James R JR; Zhang, Jinghui J
Publication Date: 2019-09

Variant appearance in text: MLH1: 882C>T; Leu294=
PubMed Link: 31439692
Variant Present in the following documents:
  • Main text
  • 1555.pdf
View BVdb publication page



Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: MLH1: 882C>T
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
View BVdb publication page



Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Plos Genetics
Soukarieh, Omar O; Gaildrat, Pascaline P; Hamieh, Mohamad M; Drouet, Aurélie A; Baert-Desurmont, Stéphanie S; Frébourg, Thierry T; Tosi, Mario M; Martins, Alexandra A
Publication Date: 2016-01

Variant appearance in text: MLH1: 882C>T; Leu294Leu
PubMed Link: 26761715
Variant Present in the following documents:
  • Main text
  • pgen.1005756.pdf
View BVdb publication page



Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

Molecular Genetics & Genomic Medicine
van der Klift, Heleen M HM; Jansen, Anne M L AM; van der Steenstraten, Niki N; Bik, Elsa C EC; Tops, Carli M J CM; Devilee, Peter P; Wijnen, Juul T JT
Publication Date: 2015-07

Variant appearance in text: MLH1: 882C>T
PubMed Link: 26247049
Variant Present in the following documents:
  • Main text
  • mgg30003-0327.pdf
View BVdb publication page



Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research
Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C
Publication Date: 2009-05

Variant appearance in text: MLH1: 882C>T
PubMed Link: 19339519
Variant Present in the following documents:
  • Main text
  • gkp215.pdf
View BVdb publication page