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NM_001128425.1(MUTYH):c.346C>T (p.Arg116Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000142812.13
Variation ID:
142812
Description:
single nucleotide variant
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NM_001128425.1(MUTYH):c.346C>T (p.Arg116Trp)

Allele ID
152526
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45333415 (GRCh38) GRCh38 UCSC
1: 45799087 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45799087G>A
NC_000001.11:g.45333415G>A
NG_008189.1:g.12056C>T
... more HGVS
Protein change
R116W, R103W, R113W, R89W, R102W, R88W, R99W
Other names
p.R116W:CGG>TGG
Canonical SPDI
NC_000001.11:45333414:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Exome Aggregation Consortium (ExAC) 0.00007
Links
ClinGen: CA013382
dbSNP: rs373766973
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 30, 2020 RCV000132238.12
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 23, 2017 RCV000212698.6
Uncertain significance 1 criteria provided, single submitter Oct 27, 2020 RCV000195451.9
Uncertain significance 1 criteria provided, single submitter Feb 7, 2020 RCV000656907.2
Uncertain significance 1 no assertion criteria provided - RCV001353576.1
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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
(Sep 27, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187321.7
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R116W variant (also known as c.346C>T), located in coding exon 3 of the MUTYH gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000254709.9
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 116 of the MUTYH protein (p.Arg116Trp). The arginine residue is weakly conserved and there is a … (more)
Uncertain significance
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000211399.13
Submitted: (Sep 25, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as a pathogenic or benign germline variant … (more)
Uncertain significance
(Jan 17, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601646.1
Submitted: (Aug 01, 2017)
Evidence details
Uncertain significance
(Oct 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919791.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: The MUTYH c.346C>T (p.Arg116Trp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant … (more)
Uncertain significance
(Sep 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000685611.4
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces arginine with tryptophan at codon 116 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Uncertain significance
(-)
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: SCV000592681.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The MYH p.Arg116Trp variant is a missense change in exon 3, and is conserved across mammals/species and computational analyses (PolyPhen, SIFT) suggest that this variant … (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

Text-mined citations for rs373766973...

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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 Sep 26, 2021