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NM_001048171.1(MUTYH):c.956-27G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 31, 2021)
Last evaluated:
May 6, 2016
Accession:
VCV000371680.2
Variation ID:
371680
Description:
single nucleotide variant
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NM_001048171.1(MUTYH):c.956-27G>A

Allele ID
357088
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331876 (GRCh38) GRCh38 UCSC
1: 45797548 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797548C>T
NC_000001.11:g.45331876C>T
NM_001350651.1:c.569-27G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45331875:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00153
The Genome Aggregation Database (gnomAD), exomes 0.00121
Trans-Omics for Precision Medicine (TOPMed) 0.00122
The Genome Aggregation Database (gnomAD) 0.00108
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00093
1000 Genomes Project 0.00080
Links
ClinGen: CA059998
dbSNP: rs188830619
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 6, 2016 RCV000412157.1
Uncertain significance 1 no assertion criteria provided - RCV000500199.3
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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 06, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487354.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV000592705.3
Submitted: (Mar 31, 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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Title Author Journal Year Link
MUTYH gene variants and breast cancer in a Dutch case–control study. Out AA Breast cancer research and treatment 2012 PMID: 22297469
Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. Olschwang S Genetic testing 2007 PMID: 17949294
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Aretz S International journal of cancer 2006 PMID: 16557584

Text-mined citations for rs188830619...

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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