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NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000766702.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)]

NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
HGVS:
  • NC_000001.11:g.45332614C>T
  • NG_008189.1:g.12857G>A
  • NM_001048171.2:c.566G>A
  • NM_001048172.2:c.569G>A
  • NM_001048173.2:c.566G>A
  • NM_001048174.2:c.566G>AMANE SELECT
  • NM_001128425.2:c.650G>A
  • NM_001293190.2:c.611G>A
  • NM_001293191.2:c.599G>A
  • NM_001293192.2:c.290G>A
  • NM_001293195.2:c.566G>A
  • NM_001293196.2:c.290G>A
  • NM_001350650.2:c.221G>A
  • NM_001350651.2:c.221G>A
  • NM_012222.3:c.641G>A
  • NP_001041636.1:p.Arg203His
  • NP_001041636.2:p.Arg189His
  • NP_001041637.1:p.Arg190His
  • NP_001041638.1:p.Arg189His
  • NP_001041639.1:p.Arg189His
  • NP_001121897.1:p.Arg217His
  • NP_001121897.1:p.Arg217His
  • NP_001280119.1:p.Arg204His
  • NP_001280120.1:p.Arg200His
  • NP_001280121.1:p.Arg97His
  • NP_001280124.1:p.Arg189His
  • NP_001280125.1:p.Arg97His
  • NP_001337579.1:p.Arg74His
  • NP_001337580.1:p.Arg74His
  • NP_036354.1:p.Arg214His
  • LRG_220t1:c.650G>A
  • LRG_220:g.12857G>A
  • LRG_220p1:p.Arg217His
  • NC_000001.10:g.45798286C>T
  • NM_001048171.1:c.608G>A
  • NM_001128425.1:c.650G>A
  • NR_146882.2:n.794G>A
  • NR_146883.2:n.643G>A
  • p.R217H
Protein change:
R189H
Links:
dbSNP: rs147754007
NCBI 1000 Genomes Browser:
rs147754007
Molecular consequence:
  • NM_001048171.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.650G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.566G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.221G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.641G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.794G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.643G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570801GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 26, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000570801.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in individuals with adenomatous polyps, colorectal cancer, and other cancers (Olschwang 2007, Schulz 2014, Schrader 2016); Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.608G>A (p.Arg203His); This variant is associated with the following publications: (PMID: 17949294, 25307848, 26556299, 28873162)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024