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NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 29, 2019
Accession:
VCV000414156.4
Variation ID:
414156
Description:
single nucleotide variant
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NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=)

Allele ID
391299
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45329408 (GRCh38) GRCh38 UCSC
1: 45795080 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45795080C>G
NC_000001.11:g.45329408C>G
NM_001048171.1:c.1506G>C NP_001041636.1:p.Pro502= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45329407:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
-
Links
ClinGen: CA16610115
dbSNP: rs143796254
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 Jul 28, 2016 RCV000465068.2
Likely benign 1 criteria provided, single submitter Aug 29, 2019 RCV000587776.2
Likely benign 1 criteria provided, single submitter Jul 26, 2016 RCV001418321.1
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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
(Aug 29, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697685.2
Submitted: (Sep 24, 2019)
Evidence details
Likely benign
(Jul 28, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000557591.3
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jul 26, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV001620546.1
Submitted: (Jan 07, 2021)
Evidence details

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 rs143796254...

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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