Full data view for gene MUTYH


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

42 entries on 1 page. Showing entries 1 - 42.
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Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Tissue     

Remarks     

Disease     

ID_report     

Reference     

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+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG Glu396fsX42 - MUTYH_000078 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Bouguen 2007 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Morocco - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, rectal - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients F - Morocco - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Baglioni 2005; OMIM:var0008 - - Unknown - - - - - DNA SEQ - - ? PMID15690400_1 PubMed: Baglioni 2005, OMIM:var0008 - - - Italy - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Baglioni 2005; OMIM:var0008 - - Unknown - - - - - DNA SEQ - - ? PMID15690400_1 PubMed: Baglioni 2005, OMIM:var0008 - - - Italy - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Venesio 2004 - - Unknown - - - - - DNA SEQ - - ? PMID15188161_1 PubMed: Venesio 2004 - - - Italy - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup; 1186_1187insGG (Glu396GlyfsX43); E396fsX437 - MUTYH_000078 - PubMed: Isidro 2004 - - Unknown - - - - - DNA SEQ - - ? PMID15366000_11 PubMed: Isidro 2004 - - - - - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Olschwang 2007 - - Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - - Mediterranean - - - - 3 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup; 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Galician - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Galician - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SSCA, TaqMan leukocyte Taqman 4 variants, screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Catalonian - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Germline - - - - - DNA SSCA, TaqMan leukocyte Taqman 4 variants, screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 No family history reported; one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Catalonian - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Unknown - - - - - DNA SSCA, TaqMan leukocyte Taqman 4 variants, screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 Family: Cousin: CRC (age 40); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Catalonian - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Gómez-Fernández 2009 - - Unknown - - - - - DNA SSCA, TaqMan leukocyte Taqman 4 variants, screen MUTYH gene (index) CRC - PubMed: Gómez-Fernández 2009 Family: Cousin: CRC (age 40); one of 14/59 (24%) APC mutation negative patients with biallelic MUTYH mutations - - Spain Catalonian - - - - 1 Astrid Out
+?/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - likely pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dupGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Lejeune 2006 - - Unknown - - - - - DNA SEQ - SEQ (ex1-16), screen MUTYH gene (index) CRC 16941501_Li-1 PubMed: Lejeune 2006 Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected - - France - - - - - 1 Carli Tops
+?/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - likely pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dupGG (Glu396GlyfsX43) - MUTYH_000078 - PubMed: Lejeune 2006 - - Unknown - - - - - DNA SEQ - SEQ (ex1-16), screen MUTYH gene (index) CRC 16941501_Li-22 PubMed: Lejeune 2006 Among 33 unrelated patients with multiple adenomas or CRC without evidence of APC or MMR defect; one monoallelic (3.3%) and 7 biallelic (21%) detected F - France - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup; 1186_1187insGG (Glu396GlyfsX43) - MUTYH_000078 estimated on basis of allele frequencies of three mutations, prevalence MAP in same order of magnitude Moroccans, as compared to Europeans, ~1/19000 Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf - - Unknown - 1/500 alleles - - - DNA SEQ - Fragment analysis, test known variants (group) ? - Laarabi, 2009, Revue d’Épidemiologie et de Sante Publique; doi:10.1016/j.respe.2009.02.125; http://www.em-consulte.com/showarticlefile/211658/main.pdf Among 250 healty Moroccans - - Morocco - - - - - 1 Astrid Out
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1187insGG - MUTYH_000078 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-12 PubMed: Lefevre 2006 Polyposis in 2 brothers M - France - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1187insGG - MUTYH_000078 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-12 PubMed: Lefevre 2006 Polyposis in 2 brothers M - France - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #1 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1187insGG - MUTYH_000078 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-31 PubMed: Lefevre 2006 Polyposis in 2 brothers M - France - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1187insGG - MUTYH_000078 - PubMed: Lefevre 2006 - - Germline - 2/64 - - - DNA SEQ normal colonic tissue screen MUTYH gene (index) CRC 17122612-31 PubMed: Lefevre 2006 Polyposis in 2 brothers M - France - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1187insGG - MUTYH_000078 - PubMed: Cattaneo 2008 - - Germline - 1/1290 - - - DNA PCRdig leukocyte test known variant (645 controls) ? - PubMed: Cattaneo 2008 645 healty controls - - Greece;Italy - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG E396fsX41 - MUTYH_000078 - PubMed: Bougatef 2007 - - Somatic - - - - - DNA SEQ tumor screen ex 7, 8 and 13 (index) CRC - PubMed: Bougatef 2007 mutation absent in normal DNA M - Tunisia - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG E396fsX41 - MUTYH_000078 - PubMed: Bougatef 2007 - - Somatic - - - - - DNA SEQ tumor screen ex 7, 8 and 13 (index) CRC - PubMed: Bougatef 2007 mutation absent in normal DNA M - Tunisia - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup; 1227_1228dupGG (Glu396GlyfsX43) - MUTYH_000078 - Genetique Moleculaires, CHRU, Lille, FR - - Germline - - - - - DNA SEQ leukocyte - cancer, colon - Genetique Moleculaires, CHRU, Lille, FR - M - Tunisia - - - - - 1 Marie-Pierre Buisine
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - Medical Genetics, UZ Gent, Gent, BE - - Unknown - 1/182 - - - DNA SEQ leukocyte - polyposis - Medical Genetics, UZ Gent, Gent, BE tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene M - Belgium - - - - - 1 Kathleen Claes
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dupGG (Glu396GlyfsX43) - MUTYH_000078 only variants reported, not genotypes Genetics, John Hunter Hospital, Newcastle, AU - - Germline - - - - - DNA SEQ - screen MUTYH gene ? - Genetics, John Hunter Hospital, Newcastle, AU - - - Australia - - - - - 1 Rodney Scott
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Parent #2 - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - - - - Unknown - - - - - DNA SEQ leukocyte - cancer, colon - - - M - Brazil white - - - - 1 Giovana Torrezan
?/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - VUS g.45797188_45797189dup g.45331516_45331517dup 1186_1187insGG Glu396fsX42 - MUTYH_000078 1 heterozygote in 250 persons, general Moroccan population PubMed: Laarabi 2010 - - Unknown - 1/500 - - - DNA PCR leukocyte test known variant ? - PubMed: Laarabi 2010 1 heterozygote in 250 persons, general Moroccan population - - Morocco - - - - - 1 Carli Tops
+/. 13 c.1227_1228dup r.(1227_1228dup) p.(Glu410GlyfsX43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup 1185_1186dup (Glu396GlyfsX43) - MUTYH_000078 - Clinical Genetics, ErasmusMC, Rotterdam, NL - - Unknown - - - - - DNA SEQ - screen MUTYH gene (index) polyposis - Clinical Genetics, ErasmusMC, Rotterdam, NL - - - - - - - - - 1 Ans M.W. van den Ouweland
+/. - c.1227_1228dup r.(?) p.(Glu410Glyfs*43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup disruptive variant - MUTYH_000078 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - F - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1227_1228dup r.(?) p.(Glu410Glyfs*43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup - - MUTYH_000078 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1227_1228dup r.(?) p.(Glu410Glyfs*43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup - - MUTYH_000078 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1227_1228dup r.(?) p.(Glu410GlyfsTer43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1227_1228dup r.(?) p.(Glu410GlyfsTer43) - Unknown - pathogenic g.45797188_45797189dup g.45331516_45331517dup MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1227_1228dup r.(?) p.(Glu410Glyfs*43) - Parent #1 - NA g.45797188_45797189dup - chr1_45797186_T_TCC - MUTYH_000078 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.1227_1228dup r.(?) p.(Glu410Glyfs*43) - Parent #1 - NA g.45797188_45797189dup - chr1_45797186_T_TCC - MUTYH_000078 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
+/. - c.1227_1228dup r.(?) p.(Glu410GlyfsTer43) - Unknown - pathogenic g.45797188_45797189dup - MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228... - MUTYH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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