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NM_001048174.2(MUTYH):c.421-5C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 20, 2020
Accession:
VCV000238347.6
Variation ID:
238347
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.421-5C>T

Allele ID
238327
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45798511 (GRCh37) GRCh37 UCSC
1: 45332839 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_220:g.12632C>T
LRG_220t1:c.505-5C>T
NC_000001.10:g.45798511G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45332838:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA10581810
dbSNP: rs878854191
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 Apr 20, 2020 RCV000232144.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 5, 2018 RCV000575584.2
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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
1651 1756

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 20, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000285953.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Nov 05, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000670135.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.505-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 7 in the MUTYH gene. This nucleotide position … (more)
Likely benign
(Jun 14, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690581.1
Submitted: (Dec 21, 2017)
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 rs878854191...

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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 Nov 27, 2021