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NM_001128425.1(MUTYH):c.997+3G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 29, 2020
Accession:
VCV000220137.5
Variation ID:
220137
Description:
single nucleotide variant
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NM_001128425.1(MUTYH):c.997+3G>A

Allele ID
221102
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332020 (GRCh38) GRCh38 UCSC
1: 45797692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797692C>T
NC_000001.11:g.45332020C>T
NM_001350651.1:c.568+3G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:45332019:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA350688
dbSNP: rs864622394
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 2, 2020 RCV000206689.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 29, 2020 RCV000567027.4
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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
1631 1733

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 21, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690620.1
Submitted: (Dec 21, 2017)
Evidence details
Uncertain significance
(May 29, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000676154.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.997+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 11 in the MUTYH gene. This nucleotide position is … (more)
Uncertain significance
(Feb 02, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000260452.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 11 of the MUTYH gene. It does not directly change the encoded amino acid sequence of the MUTYH protein, … (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
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs864622394...

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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