MSH2 c.1041G>C ;(p.K347N)

Variant ID: 2-47643533-G-C

NM_000251.2(MSH2):c.1041G>C;(p.K347N)

This variant was identified in 4 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: 1041G>C; K347N
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: 1041G>C; K347N
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



Genomic profiling of primary and recurrent adult granulosa cell tumors of the ovary.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Da Cruz Paula, Arnaud A; da Silva, Edaise M EM; Segura, Sheila E SE; Pareja, Fresia F; Bi, Rui R; Selenica, Pier P; Kim, Sarah H SH; Ferrando, Lorenzo L; Vahdatinia, Mahsa M; Soslow, Robert A RA; Vidal, August A; Gatius, Sonia S; Przybycin, Christopher G CG; Abu-Rustum, Nadeem R NR; Matias-Guiu, Xavier X; Rubin, Brian P BP; Reis-Filho, Jorge S JS; DeLair, Deborah F DF; Weigelt, Britta B
Publication Date: 2020-08

Variant appearance in text: MSH2: K347N
PubMed Link: 32203090
Variant Present in the following documents:
  • NIHMS1566235-supplement-1.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: K347N
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page