MLH1 c.637G>A ;(p.V213M)

Variant ID: 3-37053550-G-A

NM_000249.3(MLH1):c.637G>A;(p.V213M)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MLH1: V213M
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience
Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL
Publication Date: 2023-03-17

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 36879825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc4.xlsx, sheet 2
  • mmc2.xlsx, sheet 2
View BVdb publication page



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: 637G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: MLH1: V213M; rs2308317
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 637G>A; V213M; rs2308317
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp009.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: 637G>A; Val213Met
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: MLH1: Val213Met; rs2308317
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_652.pdf
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: MLH1: 637G>A; V213M; rs2308317
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: V213M
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: MLH1: 637G>A; V213M; rs2308317
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MLH1: 637G>A; Val213Met
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: MLH1: 637G>A; Val213Met; rs2308317
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: MLH1: 637G>A; Val213Met; rs2308317
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
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: MLH1: 637G>A; Val213Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pathogenic variants that alter protein code often disrupt splicing.

Nature Genetics
Soemedi, Rachel R; Cygan, Kamil J KJ; Rhine, Christy L CL; Wang, Jing J; Bulacan, Charlston C; Yang, John J; Bayrak-Toydemir, Pinar P; McDonald, Jamie J; Fairbrother, William G WG
Publication Date: 2017-06

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 28416821
Variant Present in the following documents:
  • NIHMS861030-supplement-4.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MLH1: V213M
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HNPCC2: V213M; rs2308317
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MLH1: V213M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: MLH1: V213M; rs2308317
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
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: Val213Met
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions.

Bmc Evolutionary Biology
Morgan, Claire C CC; Shakya, Kabita K; Webb, Andrew A; Walsh, Thomas A TA; Lynch, Mark M; Loscher, Christine E CE; Ruskin, Heather J HJ; O'Connell, Mary J MJ
Publication Date: 2012-07-12

Variant appearance in text: HNPCC2: V213M
PubMed Link: 22788692
Variant Present in the following documents:
  • Main text
  • 1471-2148-12-114.pdf
View BVdb publication page



Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation
Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2011-01

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 21120944
Variant Present in the following documents:
  • humu0032-0107.pdf
View BVdb publication page



Significant associations of mismatch repair gene polymorphisms with clinical outcome of pancreatic cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Dong, Xiaoqun X; Jiao, Li L; Li, Yanan Y; Evans, Douglas B DB; Wang, Huamin H; Hess, Kenneth R KR; Abbruzzese, James L JL; Li, Donghui D
Publication Date: 2009-04-01

Variant appearance in text: MLH1: V213M
PubMed Link: 19237629
Variant Present in the following documents:
  • Main text
View BVdb publication page



Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Jama
Casey, Graham G; Lindor, Noralane M NM; Papadopoulos, Nickolas N; Thibodeau, Stephen N SN; Moskow, John J; Steelman, Scott S; Buzin, Carolyn H CH; Sommer, Steve S SS; Collins, Christine E CE; Butz, Malinda M; Aronson, Melyssa M; Gallinger, Steven S; Barker, Melissa A MA; Young, Joanne P JP; Jass, Jeremy R JR; Hopper, John L JL; Diep, Anh A; Bapat, Bharati B; Salem, Michael M; Seminara, Daniela D; Haile, Robert R; ,
Publication Date: 2005-02-16

Variant appearance in text: MLH1: 637G>A; V213M
PubMed Link: 15713769
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

Gut
Cravo, M M; Afonso, A J AJ; Lage, P P; Albuquerque, C C; Maia, L L; Lacerda, C C; Fidalgo, P P; Chaves, P P; Cruz, C C; Nobre-Leitão, C C
Publication Date: 2002-03

Variant appearance in text: MLH1: V213M
PubMed Link: 11839723
Variant Present in the following documents:
  • Main text
View BVdb publication page