rs17133921
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004041.5(ARRB1):c.20+27646C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.105 in 152,076 control chromosomes in the GnomAD database, including 1,044 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 0.10 ( 1044 hom., cov: 32)
Consequence
ARRB1
NM_004041.5 intron
NM_004041.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.631
Genes affected
ARRB1 (HGNC:711): (arrestin beta 1) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.178 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARRB1 | NM_004041.5 | c.20+27646C>T | intron_variant | Intron 1 of 15 | ENST00000420843.7 | NP_004032.2 | ||
ARRB1 | NM_020251.4 | c.20+27646C>T | intron_variant | Intron 1 of 14 | NP_064647.1 | |||
ARRB1 | XM_017017752.3 | c.20+27646C>T | intron_variant | Intron 1 of 16 | XP_016873241.1 | |||
ARRB1 | XM_017017754.3 | c.20+27646C>T | intron_variant | Intron 1 of 15 | XP_016873243.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARRB1 | ENST00000420843.7 | c.20+27646C>T | intron_variant | Intron 1 of 15 | 1 | NM_004041.5 | ENSP00000409581.2 | |||
ARRB1 | ENST00000360025.7 | c.20+27646C>T | intron_variant | Intron 1 of 14 | 1 | ENSP00000353124.3 | ||||
ARRB1 | ENST00000533255.1 | n.73+27646C>T | intron_variant | Intron 1 of 5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.104 AC: 15870AN: 151958Hom.: 1039 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.105 AC: 15899AN: 152076Hom.: 1044 Cov.: 32 AF XY: 0.101 AC XY: 7531AN XY: 74354
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191
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
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