rs1800888
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000024.6(ADRB2):c.491C>T(p.Thr164Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0121 in 1,614,130 control chromosomes in the GnomAD database, including 158 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. T164T) has been classified as Likely benign.
Frequency
Consequence
NM_000024.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRB2 | NM_000024.6 | c.491C>T | p.Thr164Ile | missense_variant | 1/1 | ENST00000305988.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRB2 | ENST00000305988.6 | c.491C>T | p.Thr164Ile | missense_variant | 1/1 | NM_000024.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00905 AC: 1378AN: 152190Hom.: 10 Cov.: 33
GnomAD3 exomes AF: 0.00907 AC: 2281AN: 251490Hom.: 21 AF XY: 0.00962 AC XY: 1307AN XY: 135920
GnomAD4 exome AF: 0.0125 AC: 18200AN: 1461822Hom.: 148 Cov.: 54 AF XY: 0.0121 AC XY: 8778AN XY: 727212
GnomAD4 genome ? AF: 0.00904 AC: 1377AN: 152308Hom.: 10 Cov.: 33 AF XY: 0.00819 AC XY: 610AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2022 | ADRB2: BS1, BS2 - |
Beta-2-adrenoreceptor agonist, reduced response to Other:1
drug response, no assertion criteria provided | literature only | OMIM | Aug 01, 2004 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at