Full data view for gene MUTYH


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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.925C>T r.(?) p.(Arg309Cys) - Parent #1 - VUS g.45797846G>A g.45332174G>A - - MUTYH_000019 PolyPhen-2: (PSIC: 0,2) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.925C>T r.(?) p.Arg309Cys - Unknown - VUS g.45797846G>A g.45332174G>A Arg295Cys; R281C - MUTYH_000019 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.925C>T r.(?) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A - - MUTYH_000019 - - - - Germline - - - - - DNA PCR, SEQ - screen data 2014-11-12 ?, polyposis - - no family history M - Spain white - - - - 1 Esther Sarasola
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - PubMed: Sieber 2003 - - Unknown - 1/152 UK patients with 3-100 polyps - - - DNA SSCA, SEQ - - ? - PubMed: Sieber 2003 - F - United Kingdom (Great Britain) - - - - - 1 Astrid Out
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - PubMed: Halford 2003 - - Unknown - - - - - DNA SEQ - - ? PMID12707038_3 PubMed: Halford 2003 - - - (United Kingdom (Great Britain)) - - - - - 1 Carli Tops
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 MSH6: c.431G>T PubMed: Niessen et al. 2006 - - Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC 16408224_4 PubMed: Niessen 2006 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%), - - Netherlands - - - - - 1 Carli Tops
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - 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 - - - - - - - - 1 Astrid Out
+?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - likely pathogenic g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 1/230 - - - DNA SEQ leukocyte - cancer, breast - Molecular Medicine, AUH, Skejby, Aarhus, DK patient not screened for MSH6 mutations (see Niessen R et al. Hum Genet 119, 206-11, 2006). In addition the patient had c.mammae at 61y - - Denmark - - - - - 1 Mette Gaustadnes
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - PubMed: Vogt 2009; PubMed: Nielsen 2009b - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Vogt 2009, PubMed: Nielsen 2009b - M - Netherlands - - - - - 1 Carli Tops
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys); R295C - MUTYH_000019 - PubMed: Aretz 2006 - - Germline - 1/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis 16557584_c925 PubMed: Aretz 2006 allele frequency among 329 polyposis patients - - (Germany) - - - - - 1 Stefan Aretz
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 - Genetics, UMCG, Groningen, NL - - Unknown - - - - - DNA DGGE, SEQ - - ? - Genetics, UMCG, Groningen, NL - - - Netherlands - - - - - 1 Renee Niessen
?/. 10 c.925C>T r.(925c>u) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A 883C>T (Arg295Cys) - MUTYH_000019 MSH6: c.3259C>T PubMed: Niessen et al. 2006 - - Germline - - - - - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC 16408224_5 PubMed: Niessen 2006 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%), - - Netherlands - - - - - 1 Astrid Out
?/. 10 c.925C>T r.(?) p.Arg309Cys - Unknown - NA g.45797846G>A g.45332174G>A 20848659_R281C - MUTYH_000019 in vitro test of the DNA glycosylase activity on adenine mispaired with 8-hydroxyguanine; glycosylase activity as wildtype PubMed: Goto 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - VUS g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - likely benign g.45797846G>A g.45332174G>A MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.Arg309Cys - Unknown ACMG VUS g.45797846G>A g.45332174G>A - - MUTYH_000019 ACMG grading: BP4; Patient with two tubular adenomas (expression of all 4 MMR genes) and one hyperplastic polyp at age 24y; father CRC at age 57y, grandfather (ps) CRC at age 74y, sister of grandfather CRC at age 73y, rev. Bethesda criteria fulfilled.; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309 - - rs138089183 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.925C>T r.(?) p.Arg309Cys - Unknown ACMG VUS g.45797846G>A g.45332174G>A - - MUTYH_000019 ACMG grading: BP4; patient with several polyps (10-30); reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309 - - rs138089183 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.925C>T r.(?) p.Arg309Cys - Unknown ACMG VUS g.45797846G>A g.45332174G>A - - MUTYH_000019 ACMG grading: BP4; Mucinous Adenocarzinoma colon descendens (MSSl, IHC expression of all 4 MMR genes) at age 36y, uncle CRC < 50y, grandmother ps CRC at age 70y.; reported in Maxwell 2016. Am J Hum Genet 98: 801; Ricci 2017. J Hum Genet 62: 309; Ricci 2017. J 62: 309 - - rs138089183 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
-?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - likely benign g.45797846G>A - MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.(Arg309Cys) - Parent #1 - NA g.45797846G>A - chr1_45797846_G_A - MUTYH_000019 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 - 117/60466 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 - 117 BRIDGES consortium
?/. - c.925C>T r.(?) p.(Arg309Cys) - Parent #1 - NA g.45797846G>A - chr1_45797846_G_A - MUTYH_000019 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 - 98/53461 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 - 98 BRIDGES consortium
?/. - c.925C>T r.(?) p.(Arg309Cys) - Unknown - VUS g.45797846G>A - MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C) - MUTYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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