MLH1 c.2054C>T ;(p.S685F)

Variant ID: 3-37090459-C-T

NM_000249.3(MLH1):c.2054C>T;(p.S685F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2022-02

Variant appearance in text: MLH1: 2054C>T; Ser685Phe
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page



Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2021-11-30

Variant appearance in text: MLH1: 2054C>T; Ser685Phe
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: MLH1: 2054C>T
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
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: 2054C>T; Ser685Phe
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mechanisms and therapeutic implications of hypermutation in gliomas.

Nature
Touat, Mehdi M; Li, Yvonne Y YY; Boynton, Adam N AN; Spurr, Liam F LF; Iorgulescu, J Bryan JB; Bohrson, Craig L CL; Cortes-Ciriano, Isidro I; Birzu, Cristina C; Geduldig, Jack E JE; Pelton, Kristine K; Lim-Fat, Mary Jane MJ; Pal, Sangita S; Ferrer-Luna, Ruben R; Ramkissoon, Shakti H SH; Dubois, Frank F; Bellamy, Charlotte C; Currimjee, Naomi N; Bonardi, Juliana J; Qian, Kenin K; Ho, Patricia P; Malinowski, Seth S; Taquet, Leon L; Jones, Robert E RE; Shetty, Aniket A; Chow, Kin-Hoe KH; Sharaf, Radwa R; Pavlick, Dean D; Albacker, Lee A LA; Younan, Nadia N; Baldini, Capucine C; Verreault, Maïté M; Giry, Marine M; Guillerm, Erell E; Ammari, Samy S; Beuvon, Frédéric F; Mokhtari, Karima K; Alentorn, Agusti A; Dehais, Caroline C; Houillier, Caroline C; Laigle-Donadey, Florence F; Psimaras, Dimitri D; Lee, Eudocia Q EQ; Nayak, Lakshmi L; McFaline-Figueroa, J Ricardo JR; Carpentier, Alexandre A; Cornu, Philippe P; Capelle, Laurent L; Mathon, Bertrand B; Barnholtz-Sloan, Jill S JS; Chakravarti, Arnab A; Bi, Wenya Linda WL; Chiocca, E Antonio EA; Fehnel, Katie Pricola KP; Alexandrescu, Sanda S; Chi, Susan N SN; Haas-Kogan, Daphne D; Batchelor, Tracy T TT; Frampton, Garrett M GM; Alexander, Brian M BM; Huang, Raymond Y RY; Ligon, Azra H AH; Coulet, Florence F; Delattre, Jean-Yves JY; Hoang-Xuan, Khê K; Meredith, David M DM; Santagata, Sandro S; Duval, Alex A; Sanson, Marc M; Cherniack, Andrew D AD; Wen, Patrick Y PY; Reardon, David A DA; Marabelle, Aurélien A; Park, Peter J PJ; Idbaih, Ahmed A; Beroukhim, Rameen R; Bandopadhayay, Pratiti P; Bielle, Franck F; Ligon, Keith L KL
Publication Date: 2020-04

Variant appearance in text: MLH1: S685F
PubMed Link: 32322066
Variant Present in the following documents:
  • NIHMS1572083-supplement-1572083_Sup_Tab_4.xlsx, sheet 1
View BVdb publication page



Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.

Disease Markers
Zaib, Tahir T; Zhang, Chunhui C; Saleem, Komal K; Xu, Lidan L; Qin, Qian Q; Wang, Yusi Y; Ji, Wei W; Khan, Hanif H; Yu, Hanfei H; Zhu, Siqi S; Gao, Wei W; Huang, Yun Y; Jia, Xueyuan X; Wu, Jie J; Song, Hongtao H; Zhang, Yanqiao Y; Sun, Wenjing W; Fu, Songbin S
Publication Date: 2020

Variant appearance in text: MLH1: 2054C>T; S685F
PubMed Link: 32076465
Variant Present in the following documents:
  • Main text
  • DM2020-8360841.pdf
View BVdb publication page