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NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 17, 2021)
Last evaluated:
May 19, 2021
Accession:
VCV001172889.1
Variation ID:
1172889
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=)

Allele ID
1162033
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45329354 (GRCh38) GRCh38 UCSC
1: 45795026 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45795026C>T
NC_000001.11:g.45329354C>T
NM_001048174.2:c.1518G>A MANE Select NP_001041639.1:p.Arg506= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45329353:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 19, 2021 RCV001527000.1
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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
Likely benign
(May 19, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001737803.1
Submitted: (Jun 17, 2021)
Evidence details
Comment:
Variant summary: MUTYH c.1602G>A results in a synonymous change. The variant was absent in 251496 control chromosomes. The available data on variant occurrences in the … (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.

Record last updated Jun 23, 2021