Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000024.6(ADRB2):c.46G>A(p.Gly16Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 152090 control chromosomes in the gnomAD Genomes database, including 14124 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.426AC: 64762AN: 152090Hom.: 14124Cov.: 35 GnomAD3 exomes AF: 0.421AC: 105701AN: 251152Hom.: 22853 AF XY: 0.418AC XY: 56692AN XY: 135786 GnomAD4 exome AF: 0.384AC: 561623AN: 1461272Hom.: 109675 AF XY: 0.385AC XY: 280174AN XY: 726918
Submissions by phenotype
salmeterol response - Efficacy
|drug response, reviewed by expert panel||curation||PharmGKB||Mar 24, 2021||PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. 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 2A clinical annotations must be supported by at least two independent publications. Drug-variant association: Efficacy|
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