MLH1 c.2141G>A ;(p.W714*)

Variant ID: 3-37092014-G-A

NM_000249.3(MLH1):c.2141G>A;(p.W714*)

This variant was identified in 15 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: 2141G>A; Trp714Ter; rs63751022
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 2141G>A
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: 2141G>A; Trp714Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer
Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP
Publication Date: 2022-11-23

Variant appearance in text: MLH1: 2141G>A; Trp714Ter
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_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: MLH1: 2141G>A; Trp714Ter; rs63751022
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 2141G>A; Trp714Ter; rs63751022
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.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: 2141G>A; Trp714Ter
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

Plos One
Martin-Morales, Lorena L; Rofes, Paula P; Diaz-Rubio, Eduardo E; Llovet, Patricia P; Lorca, Victor V; Bando, Inmaculada I; Perez-Segura, Pedro P; de la Hoya, Miguel M; Garre, Pilar P; Garcia-Barberan, Vanesa V; Caldes, Trinidad T
Publication Date: 2018

Variant appearance in text: MLH1: 2141G>A; Trp714Ter
PubMed Link: 30256826
Variant Present in the following documents:
  • Main text
  • pone.0203885.pdf
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: 2141G>A; Trp714Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Publication Date: 2017-05-03

Variant appearance in text: MLH1: W714*
PubMed Link: 28466842
Variant Present in the following documents:
  • ncomms14755.pdf
View BVdb publication page



Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer.

World Journal Of Gastroenterology
Sheng, Jian-Qiu JQ; Zhang, Hong H; Ji, Min M; Fu, Lei L; Mu, Hong H; Zhang, Ming-Zhi MZ; Huang, Ji-Sheng JS; Han, Min M; Li, Ai-Qin AQ; Wei, Zhi Z; Sun, Zi-Qin ZQ; Wu, Zi-Tao ZT; Xia, Chang-Hong CH; Li, Shi-Rong SR
Publication Date: 2009-02-28

Variant appearance in text:
PubMed Link: 19248199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.

World Journal Of Gastroenterology
Papp, Janos J; Kovacs, Marietta E ME; Olah, Edith E
Publication Date: 2007-05-21

Variant appearance in text: MLH1: 2141G>A; W714X
PubMed Link: 17569143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic heterogeneity in hereditary non-polyposis colorectal cancer: identical germline mutations associated with variable tumour morphology and immunohistochemical expression.

Journal Of Clinical Pathology
Halvarsson, Britta B; Müller, Wolfram W; Planck, Maria M; Benoni, Anna Clara AC; Mangell, Peter P; Ottosson, Johan J; Hallén, Magnus M; Isinger, Anna A; Nilbert, Mef M
Publication Date: 2007-07

Variant appearance in text: MLH1: 2141G>A
PubMed Link: 16901974
Variant Present in the following documents:
  • Main text
View BVdb publication page



MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.

American Journal Of Human Genetics
Chan, Tsun Leung TL; Chan, Yee Wai YW; Ho, Judy W C JW; Chan, Celine C; Chan, Annie S Y AS; Chan, Emily E; Lam, Polly W Y PW; Tse, Chun Wah CW; Lee, Kam Cheong KC; Lau, Chi Waii CW; Gwi, Elaine E; Leung, Suet Yi SY; Yuen, Siu Tsan ST
Publication Date: 2004-05

Variant appearance in text:
PubMed Link: 15042510
Variant Present in the following documents:
  • Main text
View BVdb publication page



The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.

American Journal Of Human Genetics
Foulkes, W D WD; Thiffault, I I; Gruber, S B SB; Horwitz, M M; Hamel, N N; Lee, C C; Shia, J J; Markowitz, A A; Figer, A A; Friedman, E E; Farber, D D; Greenwood, C M T CM; Bonner, J D JD; Nafa, K K; Walsh, T T; Marcus, V V; Tomsho, L L; Gebert, J J; Macrae, F A FA; Gaff, C L CL; Paillerets, B Bressac-De BB; Gregersen, P K PK; Weitzel, J N JN; Gordon, P H PH; MacNamara, E E; King, M-C MC; Hampel, H H; De La Chapelle, A A; Boyd, J J; Offit, K K; Rennert, G G; Chong, G G; Ellis, N A NA
Publication Date: 2002-12

Variant appearance in text: N/A
PubMed Link: 12454801
Variant Present in the following documents:
View BVdb publication page