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NM_001048174.2(MUTYH):c.-5C>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 20, 2021)
Last evaluated:
Jul 27, 2021
Accession:
VCV000135987.11
Variation ID:
135987
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.-5C>T

Allele ID
139699
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45334510 (GRCh38) GRCh38 UCSC
1: 45800182 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.10961C>T
LRG_220t1:c.38C>T LRG_220p1:p.Ala13Val
NC_000001.10:g.45800182G>A
... more HGVS
Protein change
A13V
Other names
-
Canonical SPDI
NC_000001.11:45334509:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA013492
dbSNP: rs587780747
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 20, 2020 RCV000123150.10
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Jan 16, 2019 RCV000131635.7
Uncertain significance 1 criteria provided, single submitter Jul 27, 2021 RCV000485844.2
Uncertain significance 1 criteria provided, single submitter Sep 4, 2020 RCV001260346.1
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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
Uncertain significance
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186659.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A13V variant (also known as c.38C>T), located in coding exon 2 of the MUTYH gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000166453.10
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with valine at codon 13 of the MUTYH protein (p.Ala13Val). The alanine residue is weakly conserved and there is a … (more)
Uncertain significance
(Dec 22, 2015)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487325.1
Submitted: (Nov 23, 2016)
Evidence details
Uncertain significance
(Jul 12, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000679734.1
Submitted: (Aug 08, 2017)
Evidence details
Uncertain significance
(Jan 16, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000685625.3
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Sep 04, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001437279.1
Submitted: (Oct 06, 2020)
Evidence details
Comment:
Variant summary: MUTYH c.38C>T (p.Ala13Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Uncertain significance
(Jul 27, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000569382.4
Submitted: (Sep 20, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs587780747...

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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 24, 2021