ClinVar Genomic variation as it relates to human health
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
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.
Likely pathogenic(13); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
Variation ID: 135990 Accession: VCV000135990.34
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p34.1 1: 45332443 (GRCh38) [ NCBI UCSC ] 1: 45798115 (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 May 1, 2024 Jan 4, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001048174.2:c.652G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001041639.1:p.Val218Phe missense NM_001128425.2:c.736G>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001121897.1:p.Val246Phe missense NM_001048171.2:c.652G>T NP_001041636.2:p.Val218Phe missense NM_001048172.2:c.655G>T NP_001041637.1:p.Val219Phe missense NM_001048173.2:c.652G>T NP_001041638.1:p.Val218Phe missense NM_001293190.2:c.697G>T NP_001280119.1:p.Val233Phe missense NM_001293191.2:c.685G>T NP_001280120.1:p.Val229Phe missense NM_001293192.2:c.376G>T NP_001280121.1:p.Val126Phe missense NM_001293195.2:c.652G>T NP_001280124.1:p.Val218Phe missense NM_001293196.2:c.376G>T NP_001280125.1:p.Val126Phe missense NM_001350650.2:c.307G>T NP_001337579.1:p.Val103Phe missense NM_001350651.2:c.307G>T NP_001337580.1:p.Val103Phe missense NM_012222.3:c.727G>T NP_036354.1:p.Val243Phe missense NR_146882.2:n.880G>T non-coding transcript variant NR_146883.2:n.729G>T non-coding transcript variant NC_000001.11:g.45332443C>A NC_000001.10:g.45798115C>A NG_008189.1:g.13028G>T LRG_220:g.13028G>T LRG_220t1:c.736G>T LRG_220p1:p.Val246Phe - Protein change
- V246F, V232F, V218F, V103F, V126F, V219F, V243F, V229F, V233F
- Other names
- p.V246F:GTC>TTC
- Canonical SPDI
- NC_000001.11:45332442:C:A
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00009
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 |
2643 | 2796 |
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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Conflicting interpretations of pathogenicity (8) |
criteria provided, conflicting classifications
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Jan 4, 2024 | RCV000123154.24 | |
Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 27, 2023 | RCV000131615.21 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Mar 27, 2023 | RCV000212707.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Sep 25, 2019 | RCV001292933.1 |
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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Uncertain significance
(Jun 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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MYH-Associated Polyposis
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000357899.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
The c.694G>T (p.Val232Phe) variant has been reported in three studies and is found in three patients with MYH-associated polyposis, including two in a compound heterozygous … (more)
The c.694G>T (p.Val232Phe) variant has been reported in three studies and is found in three patients with MYH-associated polyposis, including two in a compound heterozygous state and in one patient allele where zygosity was not specified (Seiber et al. 2003; Gomez-Fernandez et al. 2009; Lopez-Villar et al. 2010). The p.Val232Phe variant was absent from at least 107 controls but is reported at a frequency of 0.00009 in the Latino population of the Exome Aggregation Consortium, but this is based on one allele in an area of poor sequence coverage. Two studies have provided in vitro functional analysis in E. coli cells, and the results were somewhat conflicting. Bai et al. (2005) demonstrated that the p.Val232Phe variant resulted in an 89% reduction in glycosylase activity compared to wild type after adjusting for protein concentrations. Additionally, in cells transfected with the p.Val232Phe variant, DNA binding affinity of MYH was reduced to approximately two percent compared with the wild type enzyme. However, Komine et al. (2015) utilized a different E. coli complementation method and concluded that the functionality of the p.Val232Phe variant was retained compared to wild type. Taking into consideration both the patient data and conflicting functional evidence, the p.Val232Phe variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYH-associated polyposis. (less)
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Likely pathogenic
(Sep 25, 2019)
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criteria provided, single submitter
Method: clinical testing
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Pilomatrixoma
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Study: CSER-TexasKidsCanSeq
Accession: SCV001481636.2 First in ClinVar: Feb 28, 2021 Last updated: Feb 28, 2021 |
Comment:
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 12606733, 15673720, … (more)
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 12606733, 15673720, 25820570, 24733792, 28152038, 26556299; ClinVar: 135990] (less)
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Likely pathogenic
(Nov 09, 2021)
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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: SCV002580493.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS4_MOD, PM3, PS3_SUP, PM2_SUP
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Number of individuals with the variant: 1
Sex: male
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Likely pathogenic
(Sep 03, 2023)
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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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004100060.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
Comment:
Variant summary: MUTYH c.736G>T (p.Val246Phe) results in a non-conservative amino acid change located in the HhH-GPD domain (IPR003265) of the encoded protein sequence. Three of … (more)
Variant summary: MUTYH c.736G>T (p.Val246Phe) results in a non-conservative amino acid change located in the HhH-GPD domain (IPR003265) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.6e-05 in 250286 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in MUTYH causing MUTYH-Associated Polyposis (5.6e-05 vs 0.0046), allowing no conclusion about variant significance. c.736G>T has been reported in the literature as p.Val232Phe or p.Val246Phe in a biallelic genotype in at-least three individuals affected with features of MUTYH-associated polyposis (example, Sieber_2003, Lopez-Villar_2010, Filpe_2009) and has also been reported as a presumed heterozygous monoallelic occurrence in settings of multigene panel testing (example, Kurian_2014, Guindalini_2022). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 11% of normal DNA glycosylase activity (Bai_2005) while another study characterized this as "functionally retained" attributing the discrepancy to different E. coli backgrounds in the experimental system utilized (Komine_2015). The following publications have been ascertained in the context of this evaluation (PMID: 18534194, 15673720, 26377631, 19793053, 35264596, 25820570, 24733792, 20687945, 12606733). Multiple submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 with conflicting assessments (VUS, n=2; LP, n=10). Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
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Likely pathogenic
(Aug 26, 2023)
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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: SCV004198882.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Likely pathogenic
(Sep 26, 2022)
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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: SCV001134484.4
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
Comment:
The frequency of this variant in the general population, 0.00038 (13/34544 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been … (more)
The frequency of this variant in the general population, 0.00038 (13/34544 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, the variant has been reported in individuals affected with polyposis who also carry a second pathogenic MUTYH variant (PMIDs: 20687945 (2010), 19793053 (2009), 12606733 (2003)). It has also been reported in individuals affected with polyposis and without a second pathogenic MUTYH variant (PMID: 19531215 (2009)) as well as breast cancer (PMID: 24733792 (2014)). Functional studies have shown that this variant has reduced binding and glycosylase activity (PMID: 15673720 (2005)) while another study showed indirectly that the variant was able to limit spontaneous mutations in a manner comparable to the wild-type (PMID: 25820570 (2015)). Based on the available information, this variant is classified as likely pathogenic. (less)
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Likely pathogenic
(Jan 04, 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: SCV000166458.9
First in ClinVar: Jun 16, 2014 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 246 of the MUTYH protein (p.Val246Phe). … (more)
This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 246 of the MUTYH protein (p.Val246Phe). This variant is present in population databases (rs587780749, gnomAD 0.04%). This missense change has been observed in individual(s) with MUTYH-associated polyposis (PMID: 12606733, 19793053, 20687945). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.694G>T, p.Val232Phe. ClinVar contains an entry for this variant (Variation ID: 135990). 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 tolerated. Experimental studies have shown that this missense change affects MUTYH function (PMID: 15673720, 18534194). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
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Likely pathogenic
(Feb 15, 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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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512279.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PS4 moderate
Geographic origin: Brazil
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Likely pathogenic
(Feb 12, 2022)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002532326.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The MUTYH c.736G>T (p.V246F) variant has been reported in at least 3 individuals with MUTYH-associated polyposis and/or colorectal cancer in presumed compound heterozygous states (19793053, … (more)
The MUTYH c.736G>T (p.V246F) variant has been reported in at least 3 individuals with MUTYH-associated polyposis and/or colorectal cancer in presumed compound heterozygous states (19793053, 20687945, 1260673). It has also been reported in a patient with adenomatous polyposis and a patient with gastrointestinal neuroendocrine tumor but zygosity was not specified (19531215, 26556299). This variant was also detected in 3 individuals with breast cancer (PMID 33471991, 24733792). This variant is also known as c.694G>T and c.652G>T in the literature. This variant involves a moderately conserved amino acid, and computational analyses do not provide strong support for or against an impact to the protein. Functional studies have shown that this variants results in reduced glycosylase activity and affects MUTYH protein function (PMID: 15673720, 25820570). It was observed in 13/34544 chromosomes of the Latino/Admixed American subpopulation in the Genome Aggregation Database (http://gnomad.broadinstitute.org). This variant has been reported in ClinVar (Variation ID: 135990). Based on the current evidence available, this variant is interpreted as likely pathogenic. (less)
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Likely 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: SCV000837763.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Likely pathogenic
(Dec 01, 2015)
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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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Counsyl
Accession: SCV000487315.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 24, 2022 |
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Likely pathogenic
(Mar 27, 2023)
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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: SCV000211406.14
First in ClinVar: Feb 24, 2015 Last updated: Apr 01, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: reduced glycosylase and DNA-binding activity as compared to wild type; however, ability to suppress mutation rates in MutY-deficient … (more)
Published functional studies demonstrate a damaging effect: reduced glycosylase and DNA-binding activity as compared to wild type; however, ability to suppress mutation rates in MutY-deficient E. coli have been mixed (Bai et al., 2005; Komine et al., 2015); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26694661, 23605219, 19531215, 20687945, 19506731, 34598035, 26556299, 19793053, 25820570, 15673720, 24733792, 12606733, 17161978, 18534194, 16042573, 23507534, 20725929, 19931546, 28152038, 11801590, 23108399, 35264596, 33471991) (less)
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Likely pathogenic
(Oct 19, 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: SCV000910970.4
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces valine with phenylalanine at codon 246 of the MUTYH protein. This variant is also known as c.694G>T (p.Val232Phe) based on an … (more)
This missense variant replaces valine with phenylalanine at codon 246 of the MUTYH protein. This variant is also known as c.694G>T (p.Val232Phe) based on an alternative transcript (NM_001048171). 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 reported this variant protein exhibited partially defective glycosylase and DNA binding activity (PMID: 15673720) but showed conflicting results in E. coli complementation assays, from defective to wild-type activity (PMID: 15673720, 25820570). This variant has been reported in individuals affected with multiple adenomas or polyposis (PMID: 12606733, 19793053, 20687945). At least one of these individuals carried a second pathogenic MUTYH variant in the compound heterozygous state (PMID: 12606733) while another individual carried a MUTYH variant of uncertain significance in trans (PMID: 20687945). This variant has also been reported in individuals affected with colorectal cancer, including one individual who carried this variant in the homozygous state (PMID: 19531215; ClinVar SCV000186631.8). In addition, this variant has been observed in individuals affected with gastrointestinal/neuroendocrine tumors (PMID: 26556299), bilateral breast cancer (PMID: 24733792), unilateral breast cancer (PMID: 33471991, 35264596), and head neck squamous cell carcinoma (PMID: 34598035). This variant has been identified in 14/250286 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Likely pathogenic
(Oct 27, 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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Ambry Genetics
Accession: SCV000186631.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.V246F variant (also known as c.736G>T), located in coding exon 9 of the MUTYH gene, results from a G to T substitution at nucleotide … (more)
The p.V246F variant (also known as c.736G>T), located in coding exon 9 of the MUTYH gene, results from a G to T substitution at nucleotide position 736. The valine at codon 246 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration has been detected in multiple individuals with adenomatous polyposis who also carried another MUTYH mutation, including one individual with both polyposis and colorectal cancer (Sieber OM et al. N. Engl. J. Med. 2003 Feb;348(9):791-9; Filipe B et al. Clin. Genet. 2009 Sep:76(3):242–55; Gómez-Fernández N et al. BMC Med. Genet., 2009 Jun;10:57; López-Villar I et al. BMC Cancer. 2010 Aug;10:408). Functional analyses of the mutated protein revealed reduced glycosylase and DNA binding activities compared to the wild type enzyme (Bai H et al. Nucleic Acids Res. 2005 Jan;33(2):597-604). Of note, this alteration is also designated as p.V232F in the published literature. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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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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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. | Guindalini RSC | Scientific reports | 2022 | PMID: 35264596 |
Germline variants in DNA repair genes are associated with young-onset head and neck cancer. | Cury SS | Oral oncology | 2021 | PMID: 34598035 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. | LaDuca H | PloS one | 2017 | PMID: 28152038 |
Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. | Banda DM | Free radical biology & medicine | 2017 | PMID: 28087410 |
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. | Schrader KA | JAMA oncology | 2016 | PMID: 26556299 |
Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. | Brinkmeyer MK | DNA repair | 2015 | PMID: 26377631 |
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. | Komine K | Human mutation | 2015 | PMID: 25820570 |
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2014 | PMID: 24733792 |
Simplifying the detection of MUTYH mutations by high resolution melting analysis. | López-Villar I | BMC cancer | 2010 | PMID: 20687945 |
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. | Filipe B | Clinical genetics | 2009 | PMID: 19793053 |
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? | Gómez-Fernández N | BMC medical genetics | 2009 | PMID: 19531215 |
Characterization of mutant MUTYH proteins associated with familial colorectal cancer. | Ali M | Gastroenterology | 2008 | PMID: 18534194 |
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. | Bai H | Nucleic acids research | 2005 | PMID: 15673720 |
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. | Sieber OM | The New England journal of medicine | 2003 | PMID: 12606733 |
Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. | Gu Y | The Journal of biological chemistry | 2002 | PMID: 11801590 |
Clinically relevant physiology of the vestibulo-ocular reflex. | Schwarz DW | The Journal of otolaryngology | 1976 | PMID: 186631 |
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Text-mined citations for rs587780749 ...
HelpRecord last updated May 08, 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.