title: Leiden Open Variation Database of the MUTYH gene.
abstract: The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.
authors: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Astrid A
authors: AA
authors: Out
authors: Carli M J
authors: CM
authors: Tops
authors: Maartje
authors: M
authors: Nielsen
authors: Marjan M
authors: MM
authors: Weiss
authors: Ivonne J H M
authors: IJ
authors: van Minderhout
authors: Ivo F A C
authors: IF
authors: Fokkema
authors: Marie-Pierre
authors: MP
authors: Buisine
authors: Kathleen
authors: K
authors: Claes
authors: Chrystelle
authors: C
authors: Colas
authors: Riccardo
authors: R
authors: Fodde
authors: Florentia
authors: F
authors: Fostira
authors: Patrick F
authors: PF
authors: Franken
authors: Mette
authors: M
authors: Gaustadnes
authors: Karl
authors: K
authors: Heinimann
authors: Shirley V
authors: SV
authors: Hodgson
authors: Frans B L
authors: FB
authors: Hogervorst
authors: Elke
authors: E
authors: Holinski-Feder
authors: Kristina
authors: K
authors: Lagerstedt-Robinson
authors: Sylviane
authors: S
authors: Olschwang
authors: Ans M W
authors: AM
authors: van den Ouweland
authors: Egbert J W
authors: EJ
authors: Redeker
authors: Rodney J
authors: RJ
authors: Scott
authors: Bruno
authors: B
authors: Vankeirsbilck
authors: Rikke Veggerby
authors: RV
authors: Grønlund
authors: Juul T
authors: JT
authors: Wijnen
authors: Friedrik P
authors: FP
authors: Wikman
authors: Stefan
authors: S
authors: Aretz
authors: Julian R
authors: JR
authors: Sampson
authors: Peter
authors: P
authors: Devilee
authors: Johan T
authors: JT
authors: den Dunnen
authors: Frederik J
authors: FJ
authors: Hes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D045647:DNA Glycosylases / Q000737:chemistry / Q000235:genetics*; D030541:Databases, Genetic; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009426:Netherlands; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics; D017434:Protein Structure, Tertiary
chemical_list: D020033:Protein Isoforms; D004247:DNA; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase