MSH2 c.1847C>G ;(p.P616R)

Variant ID: 2-47702251-C-G

NM_000251.2(MSH2):c.1847C>G;(p.P616R)

This variant was identified in 16 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: MSH2: 1847C>G; P616R; rs587779965
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: MSH2: 1847C>G
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.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: 1847C>G; P616R
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: MSH2: 1847C>G; Pro616Arg; rs587779965
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



Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Journal Of Clinical Medicine
Germani, Aldo A; Petrucci, Simona S; De Marchis, Laura L; Libi, Fabio F; Savio, Camilla C; Amanti, Claudio C; Bonifacino, Adriana A; Campanella, Barbara B; Capalbo, Carlo C; Lombardi, Augusto A; Maggi, Stefano S; Mattei, Mauro M; Osti, Mattia Falchetto MF; Pellegrini, Patrizia P; Speranza, Annarita A; Stanzani, Gianluca G; Vitale, Valeria V; Pizzuti, Antonio A; Torrisi, Maria Rosaria MR; Piane, Maria M
Publication Date: 2020-09-17

Variant appearance in text: MSH2: 1847C>G; Pro616Arg; rs587779965
PubMed Link: 32957588
Variant Present in the following documents:
  • Main text
  • jcm-09-03003.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: 1847C>G; Pro616Arg
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International
Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R
Publication Date: 2020

Variant appearance in text: MSH2: 1847C>G; Pro616Arg
PubMed Link: 32090079
Variant Present in the following documents:
  • BMRI2020-3289023.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: MSH2: P616R; rs587779965
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



Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes.

International Journal Of Cancer
Zhu, Qianqian Q; Zhang, Jianmin J; Chen, Yanmin Y; Hu, Qiang Q; Shen, He H; Huang, Ruea-Yea RY; Liu, Qian Q; Kaur, Jasmine J; Long, Mark M; Battaglia, Sebastiano S; Eng, Kevin H KH; Lele, Shashikant B SB; Zsiros, Emese E; Villella, Jeannine J; Lugade, Amit A; Yao, Song S; Liu, Song S; Moysich, Kirsten K; Odunsi, Kunle O KO
Publication Date: 2020-04-15

Variant appearance in text: MSH2: P616R; rs587779965
PubMed Link: 31265121
Variant Present in the following documents:
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: MSH2: 1847C>G; Pro616Arg
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.

Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14

Variant appearance in text: MSH2: P616R
PubMed Link: 30217226
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_579.pdf
  • 13073_2018_579_MOESM1_ESM.pdf
View BVdb publication page



Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget
Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD
Publication Date: 2017-11-07

Variant appearance in text: MSH2: P616R; rs587779965
PubMed Link: 29212164
Variant Present in the following documents:
  • oncotarget-08-93450-s002.xlsx, sheet 1
  • oncotarget-08-93450-s003.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: MSH2: 1847C>G; Pro616Arg; rs587779965
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
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: MSH2: 1847C>G; Pro616Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.

Bmc Medical Genomics
Cheng, Donavan T DT; Prasad, Meera M; Chekaluk, Yvonne Y; Benayed, Ryma R; Sadowska, Justyna J; Zehir, Ahmet A; Syed, Aijazuddin A; Wang, Yan Elsa YE; Somar, Joshua J; Li, Yirong Y; Yelskaya, Zarina Z; Wong, Donna D; Robson, Mark E ME; Offit, Kenneth K; Berger, Michael F MF; Nafa, Khedoudja K; Ladanyi, Marc M; Zhang, Liying L
Publication Date: 2017-05-19

Variant appearance in text: MSH2: P616R
PubMed Link: 28526081
Variant Present in the following documents:
  • Main text
  • 12920_2017_Article_271.pdf
View BVdb publication page



Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal
Richter-PechaƄska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE
Publication Date: 2017-02-03

Variant appearance in text: MSH2: P616R
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page