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NM_001128425.1(MUTYH):c.783G>T (p.Gln261His)

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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:
Oct 26, 2020
Accession:
VCV000631239.6
Variation ID:
631239
Description:
single nucleotide variant
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NM_001128425.1(MUTYH):c.783G>T (p.Gln261His)

Allele ID
616108
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45332396 (GRCh38) GRCh38 UCSC
1: 45798068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45798068C>A
NC_000001.11:g.45332396C>A
NM_001048171.1:c.741G>T NP_001041636.1:p.Gln247His missense
... more HGVS
Protein change
Q261H, Q141H, Q244H, Q248H, Q258H, Q233H, Q118H, Q234H, Q247H
Other names
-
Canonical SPDI
NC_000001.11:45332395:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs765339120
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 Oct 26, 2020 RCV001068681.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 29, 2019 RCV000777407.3
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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
1638 1742

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 29, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000913269.2
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Mar 29, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001189333.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign) ;Other data supporting benign classification
Uncertain significance
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV001233806.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with histidine at codon 261 of the MUTYH protein (p.Gln261His). The glutamine residue is weakly conserved and there is a … (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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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 rs765339120...

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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