NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) AND Carcinoma of colon

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)]

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

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
  • NC_000001.11:g.45333471C>T
  • NG_008189.1:g.12000G>A
  • NM_001048171.2:c.206G>A
  • NM_001048172.2:c.209G>A
  • NM_001048173.2:c.206G>A
  • NM_001048174.2:c.206G>AMANE SELECT
  • NM_001128425.1:c.290G>A
  • NM_001128425.2:c.290G>A
  • NM_001293190.2:c.251G>A
  • NM_001293191.2:c.239G>A
  • NM_001293192.2:c.-71G>A
  • NM_001293195.2:c.206G>A
  • NM_001293196.2:c.-71G>A
  • NM_001350650.2:c.-66G>A
  • NM_001350651.2:c.-66G>A
  • NM_012222.3:c.281G>A
  • NP_001041636.2:p.Arg69Gln
  • NP_001041637.1:p.Arg70Gln
  • NP_001041638.1:p.Arg69Gln
  • NP_001041639.1:p.Arg69Gln
  • NP_001121897.1:p.Arg97Gln
  • NP_001121897.1:p.Arg97Gln
  • NP_001280119.1:p.Arg84Gln
  • NP_001280120.1:p.Arg80Gln
  • NP_001280124.1:p.Arg69Gln
  • NP_036354.1:p.Arg94Gln
  • LRG_220t1:c.290G>A
  • LRG_220:g.12000G>A
  • LRG_220p1:p.Arg97Gln
  • NC_000001.10:g.45799143C>T
  • NC_000001.10:g.45799143C>T
  • NR_146882.2:n.434G>A
  • NR_146883.2:n.357G>A
  • p.R97Q
Protein change:
dbSNP: rs755653922
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001293192.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293196.2:c.-71G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350650.2:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350651.2:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001048171.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.209G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.1:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.251G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.281G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.434G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.357G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Carcinoma of colon (CRC)
Colonic carcinoma; Colorectal cancer, somatic; Colon cancer, somatic; See all synonyms [MedGen]
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001549177Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549177.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided


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. The variant was identified in dbSNP (ID: rs755653922) as “With Uncertain significance allele” and the Exome Aggregation Consortium database (August 8, 2016) in 1 of 121384 chromosomes (frequency: 0.000008). The variant was identified in the European (Non-Finnish) population in 1 of 66722 chromosomes (frequency: 0.00001), but not in the African, East Asian, Finnish, Latino, South Asian or Other populations. In Clinvar and Clinvitae, the variant was identified as uncertain significance by Ambry Genetics; InSiGHT Colon Cancer Gene Variant Database (LOVD) 1x as unknown. The p.Arg97 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant amino acid Glutamine (Gln) is present in cow, increasing the likelihood that this variant does not have clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 24, 2021

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