ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
Variation ID: 182689 Accession: VCV000182689.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45332794 (GRCh38) [ NCBI UCSC ] 1: 45798466 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Dec 6, 2016 Jun 17, 2024 Jan 28, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.461G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Arg154His missense NM_001128425.2:c.545G>A MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Arg182His missense NM_001048171.2:c.461G>A NP_001041636.2:p.Arg154His missense NM_001048172.2:c.464G>A NP_001041637.1:p.Arg155His missense NM_001048173.2:c.461G>A NP_001041638.1:p.Arg154His missense NM_001293190.2:c.506G>A NP_001280119.1:p.Arg169His missense NM_001293191.2:c.494G>A NP_001280120.1:p.Arg165His missense NM_001293192.2:c.185G>A NP_001280121.1:p.Arg62His missense NM_001293195.2:c.461G>A NP_001280124.1:p.Arg154His missense NM_001293196.2:c.185G>A NP_001280125.1:p.Arg62His missense NM_001350650.2:c.116G>A NP_001337579.1:p.Arg39His missense NM_001350651.2:c.116G>A NP_001337580.1:p.Arg39His missense NM_012222.3:c.536G>A NP_036354.1:p.Arg179His missense NR_146882.2:n.689G>A non-coding transcript variant NR_146883.2:n.538G>A non-coding transcript variant NC_000001.11:g.45332794C>T NC_000001.10:g.45798466C>T NG_008189.1:g.12677G>A LRG_220:g.12677G>A LRG_220t1:c.545G>A LRG_220p1:p.Arg182His - Protein change
- R182H, R62H, R154H, R165H, R179H, R39H, R155H, R169H
- Other names
- p.R182H:CGT>CAT
- Canonical SPDI
- NC_000001.11:45332793:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MUTYH | - | - |
GRCh38 GRCh37 |
2654 | 2807 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 21, 2022 | RCV000160752.8 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 23, 2023 | RCV000214896.11 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000200700.22 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 2, 2016 | RCV000508179.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 24, 2022 | RCV002478487.2 | |
MUTYH-related disorder
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Pathogenic (1) |
criteria provided, single submitter
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Jan 22, 2024 | RCV004535046.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 29, 2019)
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criteria provided, single submitter
Method: clinical testing
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MUTYH-associated polyposis
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697702.2
First in ClinVar: Mar 17, 2018 Last updated: Nov 08, 2019 |
Comment:
Variant summary: The variant, MUTYH c.545G>A (p.Arg182His) results in a non-conservative amino acid change located in the HhH-GPD domain of the encoded protein sequence. Five … (more)
Variant summary: The variant, MUTYH c.545G>A (p.Arg182His) results in a non-conservative amino acid change located in the HhH-GPD domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 246268 control chromosomes (gnomAD). The variant, c.545G>A has been reported in the literature in multiple individuals affected with Attenuated familial adenomatous polyposis and colorectal cancer (Morak_2010, Komine_2015, AlDubayan_2018, Yugelun_2017). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Shinmura_2012). Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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MYH-associated polyposis
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV000837774.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Feb 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Gastric cancer
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002796300.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jan 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000685639.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with histidine at codon 182 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces arginine with histidine at codon 182 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have shown that this variant severely impairs DNA glycosylase activity and ability to suppress mutations (PMID: 20848659, 23322991) and failed to complement a MutY-deficient bacteria strain (PMID: 25820570). This variant has been reported in compound heterozygous state with a pathogenic variant in multiple individuals affected with polyposis and colorectal cancer (PMID: 15366000, 16557584, 19394335, 20618354, 28135145, 29478780, 34704405). This variant has been identified in 3/251468 chromosomes in the general population by the Genome Aggregation Database (gnomAD). A different missense variant occuring at the same position, p.Arg182Cys, is known to be pathogenic (Clinvar variation ID: 187280), indicating that arginine at this position is important for MUTYH protein function. Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Apr 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000273003.7
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
The p.R182H pathogenic mutation (also known as c.545G>A), located in coding exon 7 of the MUTYH gene, results from a G to A substitution at … (more)
The p.R182H pathogenic mutation (also known as c.545G>A), located in coding exon 7 of the MUTYH gene, results from a G to A substitution at nucleotide position 545. The arginine at codon 182 is replaced by histidine, an amino acid with highly similar properties. This pathogenic mutation has been identified in trans in several individuals with MAP phenotypes (Isidro et al. Hum Mutat 2004 Oct; 24(4):353-4; Di Gregorio et al. Gastroenterology 2006 Aug; 131(2):439-44; Aretz et al. Int J Cancer 2006 Aug 15;119(4): 807-14; Jones N et al. Gastroenterology. 2009 Aug;137(2):489-94, 494.e1; Morak M et al. Clin Genet. 2010 Oct;78(4):353-63). In vitro studies comparing wild-type protein and variant-type proteins demonstrated severely impaired DNA glycosylase activity associated with the p.R182H alelle (Goto et al. Hum Mutat 2010 Nov; 31(11):E1861-74). This alteration has also been reported as functionally defective by one group based on results of a site-directed mutagenesis E. coli study (Komine K et al. Hum. Mutat., 2015 Jul;36:704-11). Of note, this mutation is also designated as p.R168H in published literature. Based on the majority of available evidence to date, this alteration is classified as pathogenic. (less)
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Pathogenic
(Jan 17, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004198860.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Nov 02, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604307.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
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Pathogenic
(Jun 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470576.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one patient with expected phenotype for … (more)
The best available variant frequency is uninformative because it is below the disease allele frequency. Found in at least one patient with expected phenotype for this gene. Other pathogenic or likely pathogenic variants affect the same amino acid . In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function. (less)
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580600.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM3_VSTR, PP1_STR, PS3_MOD, PS4_MOD, PM2_SUP, PP3
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Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Dec 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000211402.14
First in ClinVar: Feb 24, 2015 Last updated: Dec 31, 2022 |
Comment:
Published functional studies demonstrate a damaging effect: severely affected glycosylation and suppression of oxidative mutagenesis (Goto et al., 2010; Shinmura et al., 2012; Komine et … (more)
Published functional studies demonstrate a damaging effect: severely affected glycosylation and suppression of oxidative mutagenesis (Goto et al., 2010; Shinmura et al., 2012; Komine et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20848659, 25820570, 17273161, 19032956, 23507534, 30604180, 23322991, 15366000, 14961129, 16890597, 16557584, 19394335, 20618354, 23605219, 21901162, 28452373, 27783336, 29478780, 31589614, 16207212, 35418818, 30291343, 26681312, 32283892, 34704405, 35264596, 28135145, 34758253) (less)
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Pathogenic
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000253867.11
First in ClinVar: Oct 11, 2015 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 182 of the MUTYH protein (p.Arg182His). … (more)
This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 182 of the MUTYH protein (p.Arg182His). This variant is present in population databases (rs143353451, gnomAD 0.002%). This missense change has been observed in individuals with MUTYH-associated polyposis (PMID: 15366000, 16557584, 19032956, 19394335, 20618354). This variant is also known as R154H and R168H. ClinVar contains an entry for this variant (Variation ID: 182689). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MUTYH function (PMID: 20848659, 23322991). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 22, 2024)
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criteria provided, single submitter
Method: clinical testing
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MUTYH-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004709136.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The MUTYH c.545G>A variant is predicted to result in the amino acid substitution p.Arg182His. This variant is also known as p.Arg154His, p.Arg168His, and p.Arg179His in … (more)
The MUTYH c.545G>A variant is predicted to result in the amino acid substitution p.Arg182His. This variant is also known as p.Arg154His, p.Arg168His, and p.Arg179His in the literature. This variant was reported in the homozygous and compound heterozygous states in individuals with autosomal recessive MUTYH-associated polyposis (Isidro et al. 2004. PubMed ID: 15366000; Dell et al. 2021. PubMed ID: 34704405; Ercoskun et al. 2022. PubMed ID: 35418818). This variant was also reported in individuals with neuroblastoma, breast, pancreas, and thyroid cancers (Table S4, Bhai et al. 2021. PubMed ID: 34326862; Table S2, Guindalini et al. 2022. PubMed ID: 35264596; Table S8, Bonfiglio et al. 2023. PubMed ID: 36493725). Functional studies showed that this variant results in reduced DNA glycosylase activity and impaired suppression of oxidative mutagenesis (Goto et al. 2010. PubMed ID: 20848659; Shinmura et al. 2012. PubMed ID: 23322991; Komine et al. 2015. PubMed ID: 25820570). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/182689/). A different nucleotide substitution affecting the same amino acid (p.Arg182Cys) has been reported to be causative for autosomal recessive MUTYH-associated polyposis (De Rosa et al. 2009. PubMed ID: 19279422; Komine et al. 2015. PubMed ID: 25820570). Taken together, the c.545G>A (p.Arg182His) variant is interpreted as pathogenic. (less)
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Pathogenic
(Dec 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004837412.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces arginine with histidine at codon 182 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces arginine with histidine at codon 182 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have shown that this variant severely impairs DNA glycosylase activity and ability to suppress mutations (PMID: 20848659, 23322991) and failed to complement a MutY-deficient bacteria strain (PMID: 25820570). This variant has been reported in compound heterozygous state with a pathogenic variant in multiple individuals affected with polyposis and colorectal cancer (PMID: 15366000, 16557584, 19394335, 20618354, 28135145, 29478780, 34704405). This variant has been identified in 3/251468 chromosomes in the general population by the Genome Aggregation Database (gnomAD). A different missense variant occuring at the same position, p.Arg182Cys, is known to be pathogenic (Clinvar variation ID: 187280), indicating that arginine at this position is important for MUTYH protein function. Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 6
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Pathogenic
(Dec 11, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial adenomatous polyposis 2
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847558.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Arg182His variant in MUTYH has been reported in 6 compound heterozygous individuals with MUTYH-associated attenuated familial adenomatous polyposis (FAP; Isidro 2004, Aretz 2006, Jones … (more)
The p.Arg182His variant in MUTYH has been reported in 6 compound heterozygous individuals with MUTYH-associated attenuated familial adenomatous polyposis (FAP; Isidro 2004, Aretz 2006, Jones 2009, Morak 2010, Marabelli 2016), 2 compound heterozygous individuals with colorectal cancer (CRC; DiGregorio 2006, Morak 2010), 1 heterozygous individual with CRC (Morak 2010), and 2 heterozygous individuals with FAP and/or CRC with no second allele specified (Nielsen 2009, Susswein 2016). This variant has also been reported in ClinVar (Variation ID 182689). This variant has been identified in 0.003% (3/113758) European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). In vitro functional studies provide some evidence that the p.Arg182His variant may impact protein function (Goto 2010, Shinmura 2012). Computational prediction tools and conservation analysis suggest that the p.Arg182His variant may impact the protein. In summary, this variant meets criteria to be classified as pathogenic for MUTYH-associated FAP in an autosomal recessive manner. ACMG/AMP Criteria applied: PM3_VeryStrong, PM2, PP3, PS3_Supporting. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Familial adenomatous polyposis 2
Affected status: yes
Allele origin:
germline
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Genomics England Pilot Project, Genomics England
Accession: SCV001760035.1
First in ClinVar: Jul 27, 2021 Last updated: Jul 27, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants. | Dell'Elice A | Molecular genetics & genomic medicine | 2021 | PMID: 34704405 |
Inherited DNA-Repair Defects in Colorectal Cancer. | AlDubayan SH | American journal of human genetics | 2018 | PMID: 29478780 |
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. | Yurgelun MB | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017 | PMID: 28135145 |
Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. | Marabelli M | Genetic testing and molecular biomarkers | 2016 | PMID: 27705013 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. | Komine K | Human mutation | 2015 | PMID: 25820570 |
MUTYH-associated colorectal cancer and adenomatous polyposis. | Yamaguchi S | Surgery today | 2014 | PMID: 23605219 |
Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. | Shinmura K | World journal of gastroenterology | 2012 | PMID: 23322991 |
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. | Goto M | Human mutation | 2010 | PMID: 20848659 |
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. | Morak M | Clinical genetics | 2010 | PMID: 20618354 |
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. | Jones N | Gastroenterology | 2009 | PMID: 19394335 |
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. | Nielsen M | Gastroenterology | 2009 | PMID: 19032956 |
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. | Di Gregorio C | Gastroenterology | 2006 | PMID: 16890597 |
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. | Aretz S | International journal of cancer | 2006 | PMID: 16557584 |
Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. | Ponti G | Clinical genetics | 2005 | PMID: 16207212 |
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. | Isidro G | Human mutation | 2004 | PMID: 15366000 |
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Text-mined citations for rs143353451 ...
HelpRecord last updated Jul 07, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.