NM_000754.4(COMT):c.408C>G (p.Leu136=) AND methamphetamine use disorder

Germline classification:: Uncertain risk allele (1 submission)
Last evaluated:: Jan 16, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003313783.2

Allele description [Variation Report for NM_000754.4(COMT):c.408C>G (p.Leu136=)]

NM_000754.4(COMT):c.408C>G (p.Leu136=)

Gene:

COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_000754.4(COMT):c.408C>G (p.Leu136=)

HGVS:

NC_000022.11:g.19963684C>G
NG_011526.1:g.26945C>G
NM_000754.4:c.408C>GMANE SELECT
NM_001135161.2:c.408C>G
NM_001135162.2:c.408C>G
NM_001362828.2:c.408C>G
NM_007310.3:c.258C>G
NP_000745.1:p.Leu136=
NP_000745.1:p.Leu136=
NP_001128633.1:p.Leu136=
NP_001128634.1:p.Leu136=
NP_001349757.1:p.Leu136=
NP_009294.1:p.Leu86=
LRG_1010t1:c.408C>G
LRG_1010:g.26945C>G
LRG_1010p1:p.Leu136=
NC_000022.10:g.19951207C>G
NM_000754.3:c.408C>G

Links:

dbSNP: rs4818

NCBI 1000 Genomes Browser:

rs4818

Molecular consequence:

NM_000754.4:c.408C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001135161.2:c.408C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001135162.2:c.408C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001362828.2:c.408C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007310.3:c.258C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: methamphetamine use disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002822981	Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology	no assertion criteria provided	Uncertain risk allele (Jan 16, 2023)	germline	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002822981

Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology

no assertion criteria provided

Uncertain risk allele
(Jan 16, 2023)

germline

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
han chinese	germline	yes	186	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology, SCV002822981.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	han chinese	186	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		186	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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