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NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 31, 2021)
Accession:
VCV000433935.2
Variation ID:
433935
Description:
single nucleotide variant
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NM_012222.2(MUTYH):c.881G>T (p.Cys294Phe)

Allele ID
427131
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332209 (GRCh38) GRCh38 UCSC
1: 45797881 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797881C>A
NC_000001.11:g.45332209C>A
NM_001350651.1:c.461G>T NP_001337580.1:p.Cys154Phe missense
... more HGVS
Protein change
C297F, C283F, C177F, C270F, C280F, C284F, C294F, C269F, C154F
Other names
-
Canonical SPDI
NC_000001.11:45332208:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340134438
dbSNP: rs879254257
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000502805.2
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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
1646 1751

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000592701.2
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The p.Cys297Phe variant has not been reported in the literature nor previously identified by our laboratory. The Cys residue is conserved across mammals and computational … (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 rs879254257...

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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 Apr 12, 2021