rs4998
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000025.3(ADRB3):c.*250G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0882 in 463,364 control chromosomes in the GnomAD database, including 2,155 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.091 ( 750 hom., cov: 32)
Exomes 𝑓: 0.087 ( 1405 hom. )
Consequence
ADRB3
NM_000025.3 3_prime_UTR
NM_000025.3 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.0130
Genes affected
ADRB3 (HGNC:288): (adrenoceptor beta 3) The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Obesity and bodyweight-related disorders are correlated with certain polymorphisms in three subtypes of beta-adrenoceptor, among them, the ADRB3 gene.[provided by RefSeq, Oct 2019]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BP6
?
Variant 8-37963968-C-G is Benign according to our data. Variant chr8-37963968-C-G is described in ClinVar as [Benign]. Clinvar id is 1264874.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.136 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADRB3 | NM_000025.3 | c.*250G>C | 3_prime_UTR_variant | 2/2 | ENST00000345060.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADRB3 | ENST00000345060.5 | c.*250G>C | 3_prime_UTR_variant | 2/2 | 1 | NM_000025.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0911 AC: 13866AN: 152130Hom.: 742 Cov.: 32
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GnomAD4 exome AF: 0.0867 AC: 26973AN: 311116Hom.: 1405 Cov.: 2 AF XY: 0.0874 AC XY: 14310AN XY: 163820
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GnomAD4 genome ? AF: 0.0914 AC: 13910AN: 152248Hom.: 750 Cov.: 32 AF XY: 0.0935 AC XY: 6962AN XY: 74442
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 18, 2021 | - - |
Computational scores
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Name
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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