All variants in the MUTYH gene


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - DUPLICATE – to be removed - rs3219484 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Görgens 2006 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Görgens 2006 - rs3219484 Unknown - 1/50 (2%) HNPCC patients (42/50 <50 years); (0% of 116 controls) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219484 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - 1/250 (0.4%) patients - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Shin 2007 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Alhopuro 2005 - rs3219484 Unknown - 1/24 individuals (22 families). FAP: 19, AFAP: 3 - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Alhopuro 2005 - rs3219484 Unknown - 2/24 individuals (22 families); FAP: 19, AFAP: 3 - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - 12 Sporadic CRC patients - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kambara 2004 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - rs3219484 Unknown - - - 0 - Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Isidro 2004 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2002 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Olschwang 2007 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Küry 2007 - rs3219484 Unknown - 6/200 - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, LUMC, Leiden, NL - rs3219484 Germline - - - 0 - Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 In N-terminal mitochondrial targeting signal (Shinmura 2001) PubMed: Shinmura 2001 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - MGZ, Munchen, DE - rs3219484 Unknown - - - 0 - Elke Holinski-Feder
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 178/2512=7.1% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 3/286=1.0% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 183/2496=7.3% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Agalliu 2009 - rs3219484 Unknown - 4/158=2.5% - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Kairupan 2005 - rs3219484 Unknown - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Zhou 2005 - rs3219484 Unknown - 16,1% of n=84 - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 Genotyping 7 variants: IVS115G/C, V22M, Y90X, Y165C, G382D, E466X, S501F PubMed: Wynter 2005 - rs3219484 Unknown - 1/4 Australian multiple adenoma patients - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 6% of alleles PubMed: Russell 2006 - rs3219484 Unknown - 6% of alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 2% of alleles PubMed: Russell 2006 - rs3219484 Unknown - 2% of alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Lejeune 2006 - rs3219484 Unknown - - - 0 - Carli Tops
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219484 Unknown - 7/160 alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 V22M in 2/29 monoallelic Y165C or G382D carrying patients; 0/21 mono allelic Y165C or G382D carrying controls; Only coding region variants reported PubMed: Croitoru 2004 - rs3219484 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Croitoru 2007 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - 0 - Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - 0 - Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219484 Unknown - 15/230 - 0 - Mette Gaustadnes
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - rs3219484 Unknown - - - 0 - Kristina Lagerstedt Robinson
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - Clinical Genetics, Karolinska University Hospital, Stockholm, SE - rs3219484 Unknown - - - 0 - Kristina Lagerstedt Robinson
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T (Val22Met) - MUTYH_000005 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - rs3219484 Germline - - - 0 - Florentia Fostira
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T (Val22Met) - MUTYH_000005 - Molecular Diagnostics, NSCR Demokritos, Athens, GR - rs3219484 Germline - - - 0 - Florentia Fostira
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 only variants reported, not genotypes Genetics, John Hunter Hospital, Newcastle, AU - rs3219484 Germline - frequent - 0 - Rodney Scott
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 37/530 (7.0%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Al-Tassan 2003 - rs3219484 Germline - 15/200 (7.5%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Colebatch 2006 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T M22V - MUTYH_000005 - PubMed: Schafmayer 2007 - rs3219484 Germline - 1068 CRC patients: 151 (14.2%) heterozygous, 8 (0.7%) homozygous; 738 controls: 95 (12.9%) heterozygous, 4 (0.4%) homozygous - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Görgens 2007 - rs3219484 Germline - 4/58 (6.9%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Görgens 2007 - rs3219484 Germline - 4/60 (6.7%) - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Ashton 2005 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T - - MUTYH_000005 - PubMed: Ashton 2005 - rs3219484 Germline - - - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(64g>a) p.(Val22Met) - - VUS g.45800156C>T g.45334484C>T V22M - MUTYH_000005 - PubMed: Kanter-Smoler 2006 - rs3219484 Germline - 3/30 alleles - 0 - Astrid Out
?/. 2 c.64G>A r.(?) p.Val22Met - - NA g.45800156C>T g.45334484C>T 18534194_glycosylase_V22M - MUTYH_000005 In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; glycosylase activity for GO:A similar to WT PubMed: Ali 2008 - rs3219484 In vitro (cloned) - - - 0 - Astrid Out
?/. 2 c.64G>A r.(?) p.Val22Met - - NA g.45800156C>T g.45334484C>T 18534194_protein_V22M - MUTYH_000005 Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateñPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed PubMed: Ali 2008 - rs3219484 In vitro (cloned) - - - 0 - Astrid Out
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T MUTYH(NM_001048171.1):c.64G>A (p.(Val22Met)), MUTYH(NM_001128425.1):c.64G>A (p.V22M) - MUTYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T - - MUTYH_000005 - - - - Germline - - - 0 - Carlos Vaccaro
-/. 2 c.64G>A r.(?) p.(Val22Met) - - benign g.45800156C>T g.45334484C>T - - MUTYH_000005 - - - - Germline - - - 0 - Maximiliano Zeballos
-?/. - c.64G>A r.(?) p.(Val22Met) - - likely benign g.45800156C>T g.45334484C>T - - MUTYH_000005 149 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3219484 Germline - 149/2795 individuals - 0 - Mohammed Faruq
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