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NM_001128425.1(MUTYH):c.157+30A>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Mar 30, 2020
Accession:
VCV000257528.5
Variation ID:
257528
Description:
single nucleotide variant
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NM_001128425.1(MUTYH):c.157+30A>G

Allele ID
249966
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45334361 (GRCh38) GRCh38 UCSC
1: 45800033 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45800033T>C
NC_000001.11:g.45334361T>C
NG_008189.1:g.11110A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45334360:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00938 (C)

Allele frequency
1000 Genomes Project 0.00938
The Genome Aggregation Database (gnomAD), exomes 0.02358
The Genome Aggregation Database (gnomAD) 0.02409
Exome Aggregation Consortium (ExAC) 0.02479
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02530
Trans-Omics for Precision Medicine (TOPMed) 0.02196
Links
ClinGen: CA055533
dbSNP: rs3219485
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, single submitter - RCV000245935.4
Benign 1 criteria provided, single submitter Mar 30, 2020 RCV001286858.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001707584.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000306736.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 30, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473478.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001936526.1
Submitted: (Sep 26, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001972204.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000691952.1
Submitted: (Oct 31, 2017)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001951450.1
Submitted: (Sep 30, 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 rs3219485...

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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 07, 2021