chr5-148826812-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBA1
The NM_000024.6(ADRB2):c.-20C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.607 in 1,609,660 control chromosomes in the GnomAD database, including 305,376 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_000024.6 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.680 AC: 103410AN: 152130Hom.: 36403 Cov.: 35
GnomAD3 exomes AF: 0.682 AC: 168397AN: 246790Hom.: 59626 AF XY: 0.677 AC XY: 90584AN XY: 133742
GnomAD4 exome AF: 0.599 AC: 873685AN: 1457414Hom.: 268942 Cov.: 61 AF XY: 0.604 AC XY: 437885AN XY: 724944
GnomAD4 genome AF: 0.680 AC: 103501AN: 152246Hom.: 36434 Cov.: 35 AF XY: 0.686 AC XY: 51050AN XY: 74434
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is associated with the following publications: (PMID: 10323412) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at