MSH2 c.1914G>C ;(p.R638S)

Variant ID: 2-47702318-G-C

NM_000251.2(MSH2):c.1914G>C;(p.R638S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.

Frontiers In Oncology
Abdel-Razeq, Hikmat H; Tamimi, Faris F; Abujamous, Lama L; Abdel-Razeq, Rashid R; Abunasser, Mahmoud M; Edaily, Sara S; Abdulelah, Hazem H; Khashabeh, Razan Abu RA; Bater, Rayan R
Publication Date: 2022

Variant appearance in text: MSH2: 1914G>C
PubMed Link: 35402282
Variant Present in the following documents:
  • fonc-12-673094.pdf
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: 1914G>C; Arg638Ser
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications
Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, BrĂ­d M BM
Publication Date: 2019-12-16

Variant appearance in text: MSH2: R638S
PubMed Link: 31844068
Variant Present in the following documents:
  • Main text
  • 41467_2019_13732_MOESM1_ESM.pdf
  • 41467_2019_Article_13732.pdf
  • 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1
  • 41467_2019_13732_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page