NM_000024.5(ADRB2):c.46A= (p.Arg16=) AND salmeterol response - Efficacy

Clinical significance:drug response (Last evaluated: Oct 14, 2015)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211334.1

Allele description [Variation Report for NM_000024.5(ADRB2):c.46A= (p.Arg16=)]

NM_000024.5(ADRB2):c.46A= (p.Arg16=)

Gene:
ADRB2:adrenoceptor beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000024.5(ADRB2):c.46A= (p.Arg16=)
HGVS:
  • NC_000005.10:g.148826877G>A
  • NG_016421.1:g.5285A=
  • NM_000024.5:c.46A=
  • NP_000015.1:p.Arg16=
  • NC_000005.9:g.148206440G>A
Links:
PharmGKB Clinical Annotation: 655385102; dbSNP: rs1042713
NCBI 1000 Genomes Browser:
rs1042713
Molecular consequence:
  • NM_000024.5:c.46A= - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
salmeterol response - Efficacy
Identifiers:
MedGen: CN236580

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268132PharmGKBreviewed by expert panel
drug response
(Oct 14, 2015)
Condition: salmeterol response - Efficacy
Drug reported used for: Asthma
germlinecuration

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268132

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial.

Israel E, Chinchilli VM, Ford JG, Boushey HA, Cherniack R, Craig TJ, Deykin A, Fagan JK, Fahy JV, Fish J, Kraft M, Kunselman SJ, Lazarus SC, Lemanske RF Jr, Liggett SB, Martin RJ, Mitra N, Peters SP, Silverman E, Sorkness CA, Szefler SJ, Wechsler ME, et al.

Lancet. 2004 Oct 23-29;364(9444):1505-12.

PubMed [citation]
PMID:
15500895

beta-Adrenergic receptor polymorphisms and response to salmeterol.

Wechsler ME, Lehman E, Lazarus SC, Lemanske RF Jr, Boushey HA, Deykin A, Fahy JV, Sorkness CA, Chinchilli VM, Craig TJ, DiMango E, Kraft M, Leone F, Martin RJ, Peters SP, Szefler SJ, Liu W, Israel E; National Heart, Lung, and Blood Institute's Asthma Clinical Research Network..

Am J Respir Crit Care Med. 2006 Mar 1;173(5):519-26. Epub 2005 Dec 1.

PubMed [citation]
PMID:
16322642
PMCID:
PMC2662935
See all PubMed Citations (9)

Details of each submission

From PharmGKB, SCV000268132.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (9)

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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