MSH2 c.414C>A ;(p.N138K)

Variant ID: 2-47637280-C-A

NM_000251.2(MSH2):c.414C>A;(p.N138K)

This variant was identified in 2 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: 414C>A; Asn138Lys
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Genomic attributes of homology-directed DNA repair deficiency in metastatic prostate cancer.

Jci Insight
De Sarkar, Navonil N; Dasgupta, Sayan S; Chatterjee, Payel P; Coleman, Ilsa I; Ha, Gavin G; Ang, Lisa S LS; Kohlbrenner, Emily A EA; Frank, Sander B SB; Nunez, Talina A TA; Salipante, Stephen J SJ; Corey, Eva E; Morrissey, Colm C; Van Allen, Eliezer E; Schweizer, Michael T MT; Haffner, Michael C MC; Patel, Radhika R; Hanratty, Brian B; Lucas, Jared M JM; Dumpit, Ruth F RF; Pritchard, Colin C CC; Montgomery, Robert B RB; Nelson, Peter S PS
Publication Date: 2021-12-08

Variant appearance in text: MSH2: N138K
PubMed Link: 34877933
Variant Present in the following documents:
  • jciinsight-6-152789-s069.xlsx, sheet 8
View BVdb publication page