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NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV000406839.10
Variation ID:
406839
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)

Allele ID
391329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332481 (GRCh38) GRCh38 UCSC
1: 45798153 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45798153C>T
NM_001128425.1:c.698G>A NP_001121897.1:p.Gly233Asp missense
NC_000001.10:g.45798153C>T
... more HGVS
Protein change
G233D, G113D, G90D, G205D, G206D, G216D, G220D, G230D
Other names
-
Canonical SPDI
NC_000001.11:45332480:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA058781
dbSNP: rs147487160
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 Jun 12, 2019 RCV000567412.4
Uncertain significance 1 criteria provided, single submitter Oct 30, 2020 RCV000460021.6
Uncertain significance 1 criteria provided, single submitter Aug 6, 2019 RCV000480983.2
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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
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000545746.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with aspartic acid at codon 233 of the MUTYH protein (p.Gly233Asp). The glycine residue is highly conserved and there is … (more)
Uncertain significance
(Aug 06, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000571095.4
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
(Jun 12, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000907357.2
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(May 08, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000670162.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.G233D variant (also known as c.698G>A), located in coding exon 9 of the MUTYH gene, results from a G to A substitution at nucleotide … (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
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. Pearlman R JAMA oncology 2017 PMID: 27978560

Text-mined citations for rs147487160...

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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