Full data view for gene MUTYH


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

37 entries on 1 page. Showing entries 1 - 37.
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AscendingDNA change (cDNA)     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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+/. - c.734G>A r.(?) p.(Arg245His) - Unknown - pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 - - - - Germline/De novo (untested) - - - - - DNA MCA, MLPA, PCR, SEQ Blood - FAP1 - - - M - Russia - - - - - 1 Grigorij Yanus
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Parent #1 - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Aceto 2005 - - Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - - - DNA DHPLC, SEQ - - cancer, colon - PubMed: Aceto 2005 - - - Italy - - - - - 1 Astrid Out
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Piccioli 2006 - - Unknown - - - - - DNA SEQ - - cancer, colon PMID16455870_3 PubMed: Piccioli 2006 - - - Italy - - - - - 1 Carli Tops
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - 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 - - (France) - - - - - 1 Astrid Out
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Parent #2 - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His); R231H - MUTYH_000051 0/200 Swiss control chromosomes; evolutionary highly conserved across distantly related species (E. coli, S. pombe, mouse, rat and human); in alpha-8 helix making up the cluster domain; part of DNA binding complex (Guan , 1998) PubMed: Russell 2006 - - Unknown - - - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Russell 2006 79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP M - Switzerland - - - - - 1 Karl Heinimann
+/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Parent #1 - pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Russell 2006 - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Russell 2006 79 Swiss polyposis patients without APC germline mutations; 18 with >100 polyps; 61 with 5-99 polyps; 7 (8.9%) biallelic (in whole group, different mutations) + 9 (11.4%) monoallelic MUTYH mutation carriers; 1/18 (5.6%) with FAP; 6/61 (9.8%) with AFAP M - Switzerland - - - - - 1 Karl Heinimann
+/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 1/230 - - - DNA SEQ leukocyte - CRC - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - 1 Mette Gaustadnes
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 AlignGVGD c25, SIFT 0.00, PolyPhen probably damaging Medical Genetics, UZ Gent, Gent, BE - - Germline - 1/182 - - - DNA SEQ leukocyte - ? - 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
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Vogt 2009 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Vogt 2009 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 3/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) ? - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A; 725G>A (Arg231His); Arg242His - MUTYH_000051 - Medical Genetics, SGUL, London, UK - - Germline - - - - - DNA SEQ - - ? - Medical Genetics, SGUL, London, UK multiple tubular adenomas and few metaplastic/serrated; half sister 2 polyps; full sister multiple colonic polyps 50y on screening F - England English - - - - 1 Astrid Out
+?/. 9 c.734G>A r.(734g>a) p.(Arg245His) - Unknown - likely pathogenic g.45798117C>T g.45332445C>T 692G>A (Arg231His) - MUTYH_000051 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
+/. - c.734G>A r.(?) p.(Arg245His) - Unknown - pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 9 c.734G>A r.(?) p.Arg245His - Unknown - NA g.45798117C>T g.45332445C>T 18534194_glycosylase_R231H - MUTYH_000051 In vitro glycosylase assay; GST-tagged 535 amino acid human MUTYH; Adenine glycosylase assay for GO:A; absent glycosylase activity for GO:A PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.734G>A r.(?) p.Arg245His - Unknown - NA g.45798117C>T g.45332445C>T 18534194_binding_R231H - MUTYH_000051 DNA binding assay; GST-tagged 535 amino acid human MUTYH; gel mobility shift assays for DNA binding; absent substrate binding PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.734G>A r.(?) p.Arg245His - Unknown - NA g.45798117C>T g.45332445C>T 18534194_protein_R231H - MUTYH_000051 Protein expression assay; GST-tagged 535 amino acid human MUTYH expressed from vector in E.Coli; Sodium dodecyl sulfateƱPAGE analysis for protein weight; Western blot; Molecular weight similar to the number of codons exprected to be expressed PubMed: Ali 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PP3, PP5, PP1, PM2, PM3, PS3; suspicion of hereditary cancer predisposition in family; HBOC-12 gene panel VUS in BRCA2 and STK11 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PP1,PP3,PS3,PM2,PP5,PM3; more than 12 tubular adenomas at age 34y; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PP1,PP3,PS3,PM2,PP5,PM3; Multiple Polys at age 54, suspicion of a MUTYH-associated polyposis (MAP); reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.734G>A r.(?) p.(Arg245His) - Unknown - pathogenic g.45798117C>T g.45332445C>T MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H) - MUTYH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PP3,PM3,PM2,PP5,PP1,PS3; CRC at age 38y, BC at age 54y, 2 sisters BC at age <50y and 53y., one brother melanoma, second brother bronchial carcinoma; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PM3,PS3,PM2,PP1,PP3,PP5; patient not affected but suspicious family history: mother and grandmother (ms) both BC and endometrium CA below age 50y; reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.734G>A r.(?) p.Arg245His - Unknown ACMG pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 ACMG grading: PM3,PS3,PM2,PP1,PP3,PP5; Rectum-CA (expression of all 4 MMR genes, MSS) at age 46y, Bethesda fulfilled, father prostate-CA at age 74y, aunt (ps) CRC (no information available), family history at the maternal side includes gastric cancer (2 times around 40-55y), BC (2 times under age 50); reported in Kacerovska 2016. Am J Dermatopathol 38: 915; Komine 2015. Hum Mutat 36: 704; Yurgelun 2015. Gastroenterology 149: 604 - - rs140342925 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+?/. - c.734G>A r.(?) p.(Arg245His) - Parent #1 - likely pathogenic g.45798117C>T g.45332445C>T - - MUTYH_000051 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140342925 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.734G>A r.(?) p.(Arg245His) - Parent #1 - NA g.45798117C>T - chr1_45798117_C_T - MUTYH_000051 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 - 15/60466 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 - 15 BRIDGES consortium
?/. - c.734G>A r.(?) p.(Arg245His) - Parent #1 - NA g.45798117C>T - chr1_45798117_C_T - MUTYH_000051 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 - 14/53461 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 - 14 BRIDGES consortium
+/. - c.734G>A r.(?) p.(Arg245His) - Unknown - pathogenic g.45798117C>T - MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H) - MUTYH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.734G>A r.(?) p.(Arg245His) - Unknown - pathogenic g.45798117C>T - MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H) - MUTYH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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