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NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jun 11, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000141306.11
Variation ID:
141306
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)

Allele ID
151020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332676 (GRCh38) GRCh38 UCSC
1: 45798348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45798348C>G
NC_000001.11:g.45332676C>G
NM_001048174.2:c.504G>C MANE Select NP_001041639.1:p.Glu168Asp missense
... more HGVS
Protein change
E196D, E179D, E183D, E193D, E53D, E76D, E168D, E169D
Other names
-
Canonical SPDI
NC_000001.11:45332675:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA013929
dbSNP: rs587781645
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 Sep 9, 2020 RCV000129775.8
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 2, 2020 RCV000539493.6
Uncertain significance 1 criteria provided, single submitter Aug 5, 2015 RCV000484778.1
Uncertain significance 1 criteria provided, single submitter Apr 1, 2021 RCV001375560.1
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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
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
GeneKor MSA
Accession: SCV000822076.1
Submitted: (Aug 08, 2018)
Evidence details
Uncertain significance
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Mendelics
Accession: SCV000837770.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(Aug 05, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565254.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MUTYH c.588G>C at the cDNA level, p.Glu196Asp (E196D) at the protein level, and results in the change of a Glutamic Acid … (more)
Uncertain significance
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184584.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.E196D variant (also known as c.588G>C), located in coding exon 8 of the MUTYH gene, results from a G to C substitution at nucleotide … (more)
Uncertain significance
(Sep 02, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000639344.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamic acid with aspartic acid at codon 196 of the MUTYH protein (p.Glu196Asp). The glutamic acid residue is highly conserved and … (more)
Uncertain significance
(Apr 01, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001572440.1
Submitted: (Apr 27, 2021)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: MUTYH c.588G>C (p.Glu196Asp) results in a conservative amino acid change located in the HhH-GPD domain (IPR003265) of the encoded protein sequence. Four of … (more)
Uncertain significance
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690589.4
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces glutamic acid with aspartic acid at codon 196 of the MUTYH protein. Computational prediction suggests that this variant may not impact … (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
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

Text-mined citations for rs587781645...

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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 Jun 25, 2021