MSH2 c.1799C>T ;(p.A600V)

Variant ID: 2-47702203-C-T

NM_000251.2(MSH2):c.1799C>T;(p.A600V)

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: MSH2: 1799C>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MSH2: 1799C>T; A600V
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 1799C>T; Ala600Val
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
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: HNPCC1: A600V; rs63751236
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Establishment and characterization of a new human colon cancer cell line, PUMC-CRC1.

Scientific Reports
Bian, Xiaocui X; Cao, Fang F; Wang, Xiaowan X; Hou, Yuhong Y; Zhao, Haitao H; Liu, Yuqin Y
Publication Date: 2021-06-23

Variant appearance in text: MSH2: A600V
PubMed Link: 34162944
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_92491.pdf
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: MSH2: 1799C>T; Ala600Val
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: A600V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: HNPCC1: A600V
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: MSH2: A600V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

Human Mutation
van der Velde, K Joeri KJ; Kuiper, Joël J; Thompson, Bryony A BA; Plazzer, John-Paul JP; van Valkenhoef, Gert G; de Haan, Mark M; Jongbloed, Jan D H JD; Wijmenga, Cisca C; de Koning, Tom J TJ; Abbott, Kristin M KM; Sinke, Richard R; Spurdle, Amanda B AB; Macrae, Finlay F; Genuardi, Maurizio M; Sijmons, Rolf H RH; Swertz, Morris A MA; ,
Publication Date: 2015-07

Variant appearance in text: MSH2: 1799C>T; A600V
PubMed Link: 25871441
Variant Present in the following documents:
  • Main text
  • HUMU-36-712.pdf
View BVdb publication page



Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters
Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP
Publication Date: 2013-05

Variant appearance in text: MSH2: 1799C>T
PubMed Link: 23760103
Variant Present in the following documents:
  • Main text
  • ol-05-05-1710.pdf
View BVdb publication page



Proteasome inhibition rescues clinically significant unstable variants of the mismatch repair protein Msh2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Arlow, Tim T; Scott, Kristan K; Wagenseller, Aubrey A; Gammie, Alison A
Publication Date: 2013-01-02

Variant appearance in text: MSH2: A600V
PubMed Link: 23248292
Variant Present in the following documents:
  • Main text
View BVdb publication page