MLH1 c.806C>G ;(p.S269*)

Variant ID: 3-37059012-C-G

NM_000249.3(MLH1):c.806C>G;(p.S269*)

This variant was identified in 12 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: 806C>G
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: 806C>G; Ser269Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 806C>G; Ser269Ter; rs63750691
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: MLH1: S269*
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute
Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL
Publication Date: 2021-09-04

Variant appearance in text: MLH1: 806C>G; Ser269*
PubMed Link: 33693762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: MLH1: S269*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.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: 806C>G; Ser269Ter
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
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: 806C>G; Ser269Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: MLH1: 806C>G; Ser269Ter
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
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: 806C>G; Ser269*
PubMed Link: 26761715
Variant Present in the following documents:
  • Main text
  • pgen.1005756.pdf
View BVdb publication page



Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21

Variant appearance in text: MLH1: 806C>G; Ser269X
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
  • 6603754a.pdf
View BVdb publication page



Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

The American Journal Of Pathology
Hendriks, Yvonne Y; Franken, Patrick P; Dierssen, Jan Willem JW; De Leeuw, Wiljo W; Wijnen, Juul J; Dreef, Enno E; Tops, Carli C; Breuning, Martijn M; Bröcker-Vriends, Annette A; Vasen, Hans H; Fodde, Riccardo R; Morreau, Hans H
Publication Date: 2003-02

Variant appearance in text: MLH1: S269X
PubMed Link: 12547705
Variant Present in the following documents:
  • Main text
View BVdb publication page