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NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Aug 21, 2020
Accession:
VCV000185272.9
Variation ID:
185272
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)

Allele ID
181669
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331494 (GRCh38) GRCh38 UCSC
1: 45797166 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797166G>A
NC_000001.11:g.45331494G>A
NG_008189.1:g.13977C>T
... more HGVS
Protein change
R417C, R404C, R414C, R389C, R400C, R274C, R297C, R390C
Other names
-
Canonical SPDI
NC_000001.11:45331493:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA012396
dbSNP: rs773370513
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 Mar 18, 2019 RCV000482719.3
Uncertain significance 1 criteria provided, single submitter Feb 19, 2020 RCV000164662.5
Uncertain significance 1 criteria provided, single submitter Aug 21, 2020 RCV000233366.4
Uncertain significance 1 criteria provided, single submitter Aug 15, 2019 RCV000656911.2
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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
Uncertain significance
(Feb 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215327.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R417C variant (also known as c.1249C>T), located in coding exon 13 of the MUTYH gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Jan 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601631.1
Submitted: (Aug 01, 2017)
Evidence details
Uncertain significance
(Aug 21, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000285919.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 417 of the MUTYH protein (p.Arg417Cys). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Aug 15, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565262.5
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious … (more)
Uncertain significance
(Mar 18, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363478.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: MUTYH c.1249C>T (p.Arg417Cys) results in a non-conservative amino acid change located in the MutY, C-terminal/NUDIX hydrolase domain of the encoded protein sequence. Three … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs773370513...

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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