MSH2 c.298G>A ;(p.V100I)

Variant ID: 2-47635626-G-A

NM_000251.2(MSH2):c.298G>A;(p.V100I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH2: 298G>A; V100I
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_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: 298G>A; Val100Ile
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Unusual immunohistochemical "null" pattern of four mismatch repair proteins in gastric cancer: A case report.

World Journal Of Clinical Cases
Yue, Meng M; Liu, Jun-Ying JY; Liu, Yue-Ping YP
Publication Date: 2021-07-26

Variant appearance in text: MSH2: 298G>A; V100I
PubMed Link: 34368332
Variant Present in the following documents:
  • Main text
  • WJCC-9-6102.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: V100I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Wang, Tao T; Lee, Lik Hang LH; Vyas, Monika M; Zhang, Liying L; Ganesh, Karuna K; Firat, Canan C; Segal, Neil H NH; Desai, Avni A; Hechtman, Jaclyn F JF; Ntiamoah, Peter P; Weiser, Martin R MR; Markowitz, Arnold J AJ; Vakiani, Efsevia E; Klimstra, David S DS; Stadler, Zsofia K ZK; Shia, Jinru J
Publication Date: 2019-10

Variant appearance in text: MSH2: V100I
PubMed Link: 31175329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations.

Familial Cancer
Wang, Tao T; Stadler, Zsofia K ZK; Zhang, Liying L; Weiser, Martin R MR; Basturk, Olca O; Hechtman, Jaclyn F JF; Vakiani, Efsevia E; Saltz, Lenard B LB; Klimstra, David S DS; Shia, Jinru J
Publication Date: 2018-04

Variant appearance in text: MSH2: 298G>A; V100I
PubMed Link: 28819720
Variant Present in the following documents:
  • Main text
View BVdb publication page