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NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Mar 31, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000185512.11
Variation ID:
185512
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)

Allele ID
181728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45333471 (GRCh38) GRCh38 UCSC
1: 45799143 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45799143C>T
NC_000001.11:g.45333471C>T
NM_001048174.2:c.206G>A MANE Select NP_001041639.1:p.Arg69Gln missense
... more HGVS
Protein change
R97Q, R84Q, R70Q, R69Q, R94Q, R80Q
Other names
-
Canonical SPDI
NC_000001.11:45333470:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA013305
dbSNP: rs755653922
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 Feb 21, 2020 RCV000164952.7
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 9, 2020 RCV000612945.3
Likely benign 1 criteria provided, single submitter Dec 3, 2020 RCV000555612.4
Uncertain significance 1 no assertion criteria provided - RCV001354534.1
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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
(Oct 31, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919789.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: The MUTYH c.290G>A (p.Arg97Gln) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant … (more)
Uncertain significance
(Feb 21, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000690551.3
Submitted: (May 19, 2020)
Comment:
This missense variant replaces arginine with glutamine at codon 97 of the MUTYH protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Evidence details
Uncertain significance
(Apr 09, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000713067.2
Submitted: (Jun 03, 2020)
Evidence details
Publications
PubMed (2)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Uncertain significance
(Jan 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215643.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R97Q variant (also known as c.290G>A), located in coding exon 3 of the MUTYH gene, results from a G to A substitution at nucleotide … (more)
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000639305.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Carcinoma of colon
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: SCV001549177.1
Submitted: (Mar 31, 2021)
Evidence details
Comment:
The MUTYH p.Arg97Gln variant was not identified in the literature nor was it identified in the COSMIC, Zhejiang Colon Cancer (LOVD), COGR, or UMD database. … (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
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Maxwell KN Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25503501
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Tung N Cancer 2015 PMID: 25186627

Text-mined citations for rs755653922...

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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 Jul 07, 2021