MUTYH c.1012C>T ;(p.P338S)

Variant ID: 1-45797423-G-A

NM_001048174.1(MUTYH):c.1012C>T;(p.P338S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Frontiers In Genetics
Anaclerio, Federico F; Pilenzi, Lucrezia L; Dell'Elice, Anastasia A; Ferrante, Rossella R; Grossi, Simona S; Ferlito, Luca Maria LM; Marinelli, Camilla C; Gildetti, Simona S; Calabrese, Giuseppe G; Stuppia, Liborio L; Antonucci, Ivana I
Publication Date: 2023

Variant appearance in text: MUTYH: 1012C>T; Gln338Ter
PubMed Link: 37065479
Variant Present in the following documents:
  • Main text
  • fgene-14-1060504.pdf
View BVdb publication page



Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Molecular Genetics & Genomic Medicine
Dell'Elice, Anastasia A; Cini, Giulia G; Fornasarig, Mara M; Armelao, Franco F; Barana, Daniela D; Bianchi, Francesca F; Casalis Cavalchini, Guido Claudio GC; Maffè, Antonella A; Mammi, Isabella I; Pedroni, Monica M; Percesepe, Antonio A; Sorrentini, Italo I; Tibiletti, Mariagrazia M; Maestro, Roberta R; Quaia, Michele M; Viel, Alessandra A
Publication Date: 2021-10-26

Variant appearance in text: MUTYH: 1012C>T; Gln338*
PubMed Link: 34704405
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1831.pdf
View BVdb publication page



Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Molecular Genetics & Genomic Medicine
Dell'Elice, Anastasia A; Cini, Giulia G; Fornasarig, Mara M; Armelao, Franco F; Barana, Daniela D; Bianchi, Francesca F; Casalis Cavalchini, Guido Claudio GC; Maffè, Antonella A; Mammi, Isabella I; Pedroni, Monica M; Percesepe, Antonio A; Sorrentini, Italo I; Tibiletti, Mariagrazia M; Maestro, Roberta R; Quaia, Michele M; Viel, Alessandra A
Publication Date: 2021-12

Variant appearance in text: MUTYH: 1012C>T; Gln338*
PubMed Link: 34704405
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1831.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: MUTYH: 1012C>T; Gln338*
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
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: rs267598622
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MUTYH: 1012C>T; Gln338*
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: MUTYH: P338S
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
View BVdb publication page



Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06

Variant appearance in text: MUTYH: 1012C>T; Gln338*
PubMed Link: 28166811
Variant Present in the following documents:
  • 13073_2017_403_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page