MLH1 c.1937A>G ;(p.Y646C)

Variant ID: 3-37090048-A-G

NM_000249.3(MLH1):c.1937A>G;(p.Y646C)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MLH1: 1937A>G; Tyr646Cys; rs35045067
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: MLH1: 1937A>G
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
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Germline mutations in penetrant cancer predisposition genes are rare in men with prostate cancer selecting active surveillance.

Cancer Medicine
Brady, Lauren L; Newcomb, Lisa F LF; Zhu, Kehao K; Zheng, Yingye Y; Boyer, Hilary H; Sarkar, Navonil De N; McKenney, Jesse K JK; Brooks, James D JD; Carroll, Peter R PR; Dash, Atreya A; Ellis, William J WJ; Filson, Christopher P CP; Gleave, Martin E ME; Liss, Michael A MA; Martin, Frances F; Morgan, Todd M TM; Thompson, Ian M IM; Wagner, Andrew A AA; Pritchard, Colin C CC; Lin, Daniel W DW; Nelson, Peter S PS
Publication Date: 2022-11

Variant appearance in text: MLH1: 1937A>G; Tyr646Cys
PubMed Link: 35467778
Variant Present in the following documents:
  • CAM4-11-4332-s001.xls, sheet 1
View BVdb publication page



Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MLH1: 1896+874A>G; Y646C; rs35045067
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.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: HNPCC2: Y646C; rs35045067
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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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: 1937A>G; Tyr646Cys; rs35045067
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



The contribution of Lynch syndrome to early onset malignancy in Ireland.

Bmc Cancer
Talbot, Alice A; O'Donovan, Emily E; Berkley, Eileen E; Nolan, Carmel C; Clarke, Roisin R; Gallagher, David D
Publication Date: 2021-05-26

Variant appearance in text: MLH1: 1937A>G; Tyr646Cys
PubMed Link: 34039291
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8263.pdf
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: MLH1: 1937A>G; Y646C
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Frontiers In Oncology
Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG
Publication Date: 2020

Variant appearance in text: MLH1: 1937A>G
PubMed Link: 32547938
Variant Present in the following documents:
  • Main text
  • fonc-10-00666.pdf
View BVdb publication page



Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.

Annals Of Laboratory Medicine
Yoo, Jaeeun J; Lee, Gun Dong GD; Kim, Jee Hae JH; Lee, Seung Nam SN; Chae, Hyojin H; Han, Eunhee E; Kim, Yonggoo Y; Kim, Myungshin M
Publication Date: 2020-03

Variant appearance in text: MLH1: 1937A>G; Tyr646Cys; rs35045067
PubMed Link: 31650731
Variant Present in the following documents:
  • Main text
  • alm-40-148.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: MLH1: Y646C; rs35045067
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 6
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.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: 1937A>G; Tyr646Cys
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MLH1: Y646C
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s008.xlsx, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: MLH1: Y646C
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
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: 1937A>G; Tyr646Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: Y646C; rs35045067
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: Y646C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs35045067
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Integrated analysis of mismatch repair system in malignant astrocytomas.

Plos One
Rodríguez-Hernández, Irene I; Garcia, Juan Luis JL; Santos-Briz, Angel A; Hernández-Laín, Aurelio A; González-Valero, Jose María JM; Gómez-Moreta, Juan Antonio JA; Toldos-González, Oscar O; Cruz, Juan Jesús JJ; Martin-Vallejo, Javier J; González-Sarmiento, Rogelio R
Publication Date: 2013

Variant appearance in text: MLH1: Tyr646Cys
PubMed Link: 24073290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

British Journal Of Cancer
Pal, T T; Akbari, M R MR; Sun, P P; Lee, J-H JH; Fulp, J J; Thompson, Z Z; Coppola, D D; Nicosia, S S; Sellers, T A TA; McLaughlin, J J; Risch, H A HA; Rosen, B B; Shaw, P P; Schildkraut, J J; Narod, S A SA
Publication Date: 2012-11-06

Variant appearance in text: MLH1: Tyr646Cys
PubMed Link: 23047549
Variant Present in the following documents:
  • Main text
  • bjc2012452a.pdf
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: Tyr646Cys
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
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: 1937A>G; Y646C
PubMed Link: 21120944
Variant Present in the following documents:
  • Main text
  • humu0032-0107.pdf
View BVdb publication page



Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE
Publication Date: 2010-10-11

Variant appearance in text: MLH1: Y646C
PubMed Link: 20981267
Variant Present in the following documents:
  • BBI-4-supplementary.xls, sheet 4
View BVdb publication page



Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

Bmc Cancer
Vogelsang, Matjaz M; Comino, Aleksandra A; Zupanec, Neja N; Hudler, Petra P; Komel, Radovan R
Publication Date: 2009-10-28

Variant appearance in text: MLH1: Y646C
PubMed Link: 19863800
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science
Doss, C George Priya CG; Sethumadhavan, Rao R
Publication Date: 2009-04-24

Variant appearance in text: MLH1: Y646C; rs35045067
PubMed Link: 19389263
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-42.pdf
View BVdb publication page



In silico analysis of missense substitutions using sequence-alignment based methods.

Human Mutation
Tavtigian, Sean V SV; Greenblatt, Marc S MS; Lesueur, Fabienne F; Byrnes, Graham B GB; ,
Publication Date: 2008-11

Variant appearance in text: MLH1: Y646C
PubMed Link: 18951440
Variant Present in the following documents:
  • Main text
View BVdb publication page