rs28763957
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000024.6(ADRB2):c.*26C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000405 in 1,280,378 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00028 ( 0 hom., cov: 27)
Exomes 𝑓: 0.00041 ( 6 hom. )
Consequence
ADRB2
NM_000024.6 3_prime_UTR
NM_000024.6 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.168
Genes affected
ADRB2 (HGNC:286): (adrenoceptor beta 2) This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinson's Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BS2
?
High AC in GnomAd4 at 28 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRB2 | NM_000024.6 | c.*26C>A | 3_prime_UTR_variant | 1/1 | ENST00000305988.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRB2 | ENST00000305988.6 | c.*26C>A | 3_prime_UTR_variant | 1/1 | NM_000024.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000283 AC: 28AN: 98850Hom.: 0 Cov.: 27
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GnomAD3 exomes AF: 0.000406 AC: 55AN: 135490Hom.: 0 AF XY: 0.000354 AC XY: 26AN XY: 73356
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GnomAD4 exome AF: 0.000415 AC: 490AN: 1181528Hom.: 6 Cov.: 25 AF XY: 0.000387 AC XY: 229AN XY: 592428
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GnomAD4 genome ? AF: 0.000283 AC: 28AN: 98850Hom.: 0 Cov.: 27 AF XY: 0.000380 AC XY: 18AN XY: 47312
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at