NM_000754.3(COMT):c.472G>A (p.Val158Met) AND nicotine response - Efficacy

Clinical significance:drug response (Last evaluated: Dec 20, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211145.1

Allele description [Variation Report for NM_000754.3(COMT):c.472G>A (p.Val158Met)]

NM_000754.3(COMT):c.472G>A (p.Val158Met)

Gene:
COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_000754.3(COMT):c.472G>A (p.Val158Met)
Other names:
COMT, VAL158MET (rs4680)
HGVS:
  • NC_000022.11:g.19963748G>A
  • NG_011526.1:g.27009G>A
  • NM_000754.3:c.472G>A
  • NP_000745.1:p.Val158Met
  • LRG_1010t1:c.472G>A
  • LRG_1010:g.27009G>A
  • LRG_1010p1:p.Val158Met
  • NC_000022.10:g.19951271G>A
  • P21964:p.Val158Met
Protein change:
V158M; VAL158MET
Links:
PharmGKB Clinical Annotation: 981202618; UniProtKB: P21964#VAR_005139; OMIM: 116790.0001; dbSNP: rs4680
NCBI 1000 Genomes Browser:
rs4680
Molecular consequence:
  • NM_000754.3:c.472G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
nicotine response - Efficacy
Identifiers:
MedGen: CN236568

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268339PharmGKBreviewed by expert panel
drug response
(Dec 20, 2017)
Condition: nicotine response - Efficacy
Drug reported used for: Tobacco Use Disorder
germlinecuration

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268339

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Significant association of catechol-O-methyltransferase (COMT) haplotypes with nicotine dependence in male and female smokers of two ethnic populations.

Beuten J, Payne TJ, Ma JZ, Li MD.

Neuropsychopharmacology. 2006 Mar;31(3):675-84.

PubMed [citation]
PMID:
16395295

Association of COMT Val108/158Met genotype with smoking cessation in a nicotine replacement therapy randomized trial.

Johnstone EC, Elliot KM, David SP, Murphy MF, Walton RT, Munafò MR.

Cancer Epidemiol Biomarkers Prev. 2007 Jun;16(6):1065-9.

PubMed [citation]
PMID:
17548664
PMCID:
PMC2031911
See all PubMed Citations (7)

Details of each submission

From PharmGKB, SCV000268339.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (7)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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

Last Updated: Mar 30, 2019

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