MSH2 c.655A>G ;(p.R219G)

Variant ID: 2-47639562-A-G

NM_000251.2(MSH2):c.655A>G;(p.R219G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 655A>G; R219G
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of 18 human colorectal cancer cell lines.

Scientific Reports
Kim, Soon-Chan SC; Kim, Hyun-Soo HS; Kim, Jae Hyeon JH; Jeong, Nahyun N; Shin, Young-Kyoung YK; Kim, Min Jung MJ; Park, Ji Won JW; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2020-04-22

Variant appearance in text: MSH2: 655A>G
PubMed Link: 32321971
Variant Present in the following documents:
  • 41598_2020_63812_MOESM1_ESM.pdf
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: R219G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.

Radiology And Oncology
Vodusek, Ana Lina AL; Novakovic, Srdjan S; Stegel, Vida V; Jereb, Berta B
Publication Date: 2011-12

Variant appearance in text: MSH2: 655A>G
PubMed Link: 22933969
Variant Present in the following documents:
  • rado-45-04-296.pdf
View BVdb publication page



Hereditary colorectal cancer in china.

Hereditary Cancer In Clinical Practice
Shu, Zheng Z; Yanqin, Huang H; Ying, Yuan Y
Publication Date: 2005-11-15

Variant appearance in text: MSH2: 655A>G
PubMed Link: 20223042
Variant Present in the following documents:
  • Main text
  • 1897-4287-3-4-155.pdf
View BVdb publication page