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NM_001048171.1(MUTYH):c.637G>A (p.Ala213Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Sep 30, 2021)
Last evaluated:
Jul 28, 2021
Accession:
VCV000229778.13
Variation ID:
229778
Description:
single nucleotide variant
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NM_001048171.1(MUTYH):c.637G>A (p.Ala213Thr)

Allele ID
232253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332585 (GRCh38) GRCh38 UCSC
1: 45798257 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.12886G>A
NC_000001.10:g.45798257C>T
NC_000001.11:g.45332585C>T
... more HGVS
Protein change
A227T, A213T, A200T, A224T, A84T, A107T, A199T, A210T, A214T
Other names
-
Canonical SPDI
NC_000001.11:45332584:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA058577
dbSNP: rs369854269
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 12, 2020 RCV000222437.8
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 18, 2020 RCV000460674.8
Uncertain significance 4 criteria provided, multiple submitters, no conflicts Jul 28, 2021 RCV000589976.5
Uncertain significance 1 criteria provided, single submitter Oct 10, 2019 RCV001175349.1
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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
1646 1751

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 28, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000566119.6
Submitted: (Sep 30, 2021)
Evidence details
Comment:
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: 31465090, … (more)
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000792955.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000806365.1
Submitted: (Jan 29, 2018)
Evidence details
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
GeneKor MSA
Accession: SCV000822078.1
Submitted: (Aug 08, 2018)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257407.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Oct 10, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697706.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MUTYH c.679G>A (p.Ala227Thr) results in a non-conservative amino acid change located in the HhH-GPD domain (IPR003265) of the encoded protein sequence. Five of … (more)
Uncertain significance
(Dec 26, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000273111.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A227T variant (also known as c.679G>A), located in coding exon 8 of the MUTYH gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 18, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000545723.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces alanine with threonine at codon 227 of the MUTYH protein (p.Ala227Thr). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 12, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000685656.4
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces alanine with threonine at codon 227 of the MUTYH protein. This variant is also known as c.637G>A (p.Ala213Thr) based on an … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925580.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953364.1
Submitted: (Sep 30, 2021)
Evidence details

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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. Tsaousis GN BMC cancer 2019 PMID: 31159747
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
Patterns and functional implications of rare germline variants across 12 cancer types. Lu C Nature communications 2015 PMID: 26689913
Prospective derivation of a living organoid biobank of colorectal cancer patients. van de Wetering M Cell 2015 PMID: 25957691

Text-mined citations for rs369854269...

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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 06, 2021