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NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Mar 31, 2021)
Last evaluated:
Jan 3, 2020
Accession:
VCV000232291.8
Variation ID:
232291
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)

Allele ID
232244
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332252 (GRCh38) GRCh38 UCSC
1: 45797924 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.13219A>G
LRG_220t1:c.847A>G LRG_220p1:p.Met283Val
NM_001128425.1:c.847A>G NP_001121897.1:p.Met283Val missense
... more HGVS
Protein change
M283V, M140V, M163V, M256V, M255V, M266V, M270V, M280V
Other names
-
Canonical SPDI
NC_000001.11:45332251:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs876659676
ClinGen: CA10577722
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 3, 2020 RCV000216419.5
Pathogenic 1 criteria provided, single submitter Sep 8, 2015 RCV000479475.1
Likely pathogenic 1 criteria provided, single submitter Dec 11, 2018 RCV000536194.4
Pathogenic 1 no assertion criteria provided - RCV001355443.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
1645 1750

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 08, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000567803.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This pathogenic variant is denoted MUTYH c.847A>G at the cDNA level, p.Met283Val (M283V) at the protein level, and results in the change of a Methionine … (more)
Likely pathogenic
(Dec 11, 2018)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000639358.4
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces methionine with valine at codon 283 of the MUTYH protein (p.Met283Val). The methionine residue is highly conserved and there is a … (more)
Likely pathogenic
(Jan 22, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000276384.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.M283V variant (also known as c.847A>G), located in coding exon 10 of the MUTYH gene, results from an A to G substitution at nucleotide … (more)
Likely pathogenic
(Jan 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000911616.2
Submitted: (May 19, 2020)
Comment:
This missense variant replaces methionine with valine at codon 283 of the MUTYH protein. Computational prediction suggests that this variant may have deleterious impact on … (more)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Carcinoma of colon
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550329.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The MUTYH p.Met283Val variant was identified in 2 of 460 proband chromosomes (frequency: 0.004) from individuals or families with colorectal cancer or cecum carcinoma (Lejeune … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. Komine K Human mutation 2015 PMID: 25820570
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
Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. van Puijenbroek M Clinical cancer research : an official journal of the American Association for Cancer Research 2008 PMID: 18172263
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. Lejeune S Human mutation 2006 PMID: 16941501

Text-mined citations for rs876659676...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021