MSH6 c.2980T>A ;(p.Y994N)

Variant ID: 2-48028102-T-A

NM_000179.2(MSH6):c.2980T>A;(p.Y994N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.

Frontiers In Immunology
IJspeert, Hanna H; van Schouwenburg, Pauline A PA; Pico-Knijnenburg, Ingrid I; Loeffen, Jan J; Brugieres, Laurence L; Driessen, Gertjan J GJ; Blattmann, Claudia C; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Seidel, Marcus G MG; Jacobs, Heinz H; van der Burg, Mirjam M
Publication Date: 2019

Variant appearance in text: MSH6: 2980T>A; Y994N
PubMed Link: 31507588
Variant Present in the following documents:
  • Main text
  • fimmu-10-01913.pdf
View BVdb publication page



High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
Publication Date: 2020-04

Variant appearance in text: MSH6: Tyr994Asn
PubMed Link: 31494577
Variant Present in the following documents:
  • jmedgenet-2019-106272supp001.xlsx, sheet 1
  • jmedgenet-2019-106272supp001.xlsx, sheet 7
View BVdb publication page



A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Human Mutation
Gallon, Richard R; Mühlegger, Barbara B; Wenzel, Sören-Sebastian SS; Sheth, Harsh H; Hayes, Christine C; Aretz, Stefan S; Dahan, Karin K; Foulkes, William W; Kratz, Christian P CP; Ripperger, Tim T; Azizi, Amedeo A AA; Baris Feldman, Hagit H; Chong, Anne-Laure AL; Demirsoy, Ugur U; Florkin, Benoît B; Imschweiler, Thomas T; Januszkiewicz-Lewandowska, Danuta D; Lobitz, Stephan S; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Perez-Alonso, Vanesa V; Perne, Claudia C; Ragab, Iman I; Rosenbaum, Thorsten T; Rueda, Daniel D; Seidel, Markus G MG; Suerink, Manon M; Taeubner, Julia J; Zimmermann, Stefanie-Yvonne SY; Zschocke, Johannes J; Borthwick, Gillian M GM; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Wimmer, Katharina K
Publication Date: 2019-05

Variant appearance in text: MSH6: Tyr994Asn
PubMed Link: 30740824
Variant Present in the following documents:
  • Main text
  • HUMU-40-649-s003.xlsx, sheet 1
  • HUMU-40-649-s002.xlsx, sheet 1
View BVdb publication page



No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Frontiers In Immunology
Tesch, Victoria K VK; IJspeert, Hanna H; Raicht, Andrea A; Rueda, Daniel D; Dominguez-Pinilla, Nerea N; Allende, Luis M LM; Colas, Chrystelle C; Rosenbaum, Thorsten T; Ilencikova, Denisa D; Baris, Hagit N HN; Nathrath, Michaela H M MHM; Suerink, Manon M; Januszkiewicz-Lewandowska, Danuta D; Ragab, Iman I; Azizi, Amedeo A AA; Wenzel, Soeren S SS; Zschocke, Johannes J; Schwinger, Wolfgang W; Kloor, Matthias M; Blattmann, Claudia C; Brugieres, Laurence L; van der Burg, Mirjam M; Wimmer, Katharina K; Seidel, Markus G MG
Publication Date: 2018

Variant appearance in text: MSH6: Tyr994Asn
PubMed Link: 30013564
Variant Present in the following documents:
  • Main text
  • fimmu-09-01506.pdf
View BVdb publication page