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NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) AND nicotine response - Toxicity

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 24, 2021
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV001787807.11

Allele description [Variation Report for NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)]

NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)

Gene:
CHRNA5:cholinergic receptor nicotinic alpha 5 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.1
Genomic location:
Preferred name:
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)
Other names:
CHRNA5, ASP398ASN, rs16969968
HGVS:
  • NC_000015.10:g.78590583G>A
  • NG_023328.1:g.30064G>A
  • NM_000745.4:c.1192G>AMANE SELECT
  • NM_001307945.2:c.458+734G>A
  • NM_001395171.1:c.1115+77G>A
  • NM_001395172.1:c.591+601G>A
  • NM_001395173.1:c.713+479G>A
  • NM_001395174.1:c.707+485G>A
  • NM_001395175.1:c.455+734G>A
  • NP_000736.2:p.Asp398Asn
  • NP_000736.2:p.Asp398Asn
  • NC_000015.9:g.78882925G>A
  • NM_000745.3:c.1192G>A
  • P30532:p.Asp398Asn
Protein change:
D398N; ASP398ASN
Links:
PharmGKB: 981204902PA450626; UniProtKB: P30532#VAR_046212; OMIM: 118505.0001; dbSNP: rs16969968
NCBI 1000 Genomes Browser:
rs16969968
Molecular consequence:
  • NM_001307945.2:c.458+734G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001395171.1:c.1115+77G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001395172.1:c.591+601G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001395173.1:c.713+479G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001395174.1:c.707+485G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001395175.1:c.455+734G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000745.4:c.1192G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
nicotine response - Toxicity
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925406PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)
drug response
(Mar 24, 2021)
Condition: nicotine response - Toxicity
Drug reported used for: Tobacco Use Disorder
germlinecuration

PubMed (18)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.

Weiss RB, Baker TB, Cannon DS, von Niederhausern A, Dunn DM, Matsunami N, Singh NA, Baird L, Coon H, McMahon WM, Piper ME, Fiore MC, Scholand MB, Connett JE, Kanner RE, Gahring LC, Rogers SW, Hoidal JR, Leppert MF.

PLoS Genet. 2008 Jul 11;4(7):e1000125. doi: 10.1371/journal.pgen.1000125.

PubMed [citation]
PMID:
18618000
PMCID:
PMC2442220

Variants in nicotinic acetylcholine receptors alpha5 and alpha3 increase risks to nicotine dependence.

Chen X, Chen J, Williamson VS, An SS, Hettema JM, Aggen SH, Neale MC, Kendler KS.

Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):926-33. doi: 10.1002/ajmg.b.30919.

PubMed [citation]
PMID:
19132693
PMCID:
PMC3081884
See all PubMed Citations (18)

Details of each submission

From PharmGKB, SCV000925406.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (18)

Description

PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications.

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

Last Updated: Jan 13, 2025