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

Variation ID: Help
17591
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

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

Allele ID:
32630
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.2
Genomic location:
  • Chr22: 19963748 (on Assembly GRCh38)
  • Chr22: 19951271 (on Assembly GRCh37)
Other names:
  • COMT, VAL158MET (rs4680)
Protein change:
V158M
HGVS:
  • NG_011526.1:g.27009G>A
  • NM_000754.3:c.472G>A
  • NC_000022.11:g.19963748G>A (GRCh38)
  • NP_000745.1:p.Val158Met
  • NC_000022.10:g.19951271G>A (GRCh37)
  • P21964:p.Val158Met
Links:
NCBI 1000 Genomes Browser:
rs4680
Molecular consequence:
NM_000754.3:c.472G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.45148 (A)
  • GMAF 0.36920 (A)

Variant frequency in dbGaP Help

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

GRCh37 Chr22:19951271
Called variantsPotential variants
Sample count39193 of 5063827865 of 38931

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Jan 1, 2011)
no assertion criteria providedliterature only
  • CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
germlineOMIMSCV000039444.2

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug responsereviewed by expert panel
(Pharmacogenomics knowledge for personalized medicine)
literature onlyCondition: nicotine response - Efficacy
  • Drug reported used for: Tobacco use disorder[MedGen]
germlinePharmGKBSCV000268339.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlineWhitenot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
PharmGKBnot providednot providedgermlineWhitenot providedPharmGKB Level of Evidence 2A:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 23, 2016