rs4994
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000025.3(ADRB3):āc.190T>Cā(p.Trp64Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0884 in 1,613,570 control chromosomes in the GnomAD database, including 7,132 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_000025.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADRB3 | NM_000025.3 | c.190T>C | p.Trp64Arg | missense_variant | 1/2 | ENST00000345060.5 | NP_000016.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADRB3 | ENST00000345060.5 | c.190T>C | p.Trp64Arg | missense_variant | 1/2 | 1 | NM_000025.3 | ENSP00000343782 | P1 | |
ADRB3 | ENST00000520341.2 | n.318T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.0927 AC: 14099AN: 152152Hom.: 761 Cov.: 33
GnomAD3 exomes AF: 0.106 AC: 26242AN: 247172Hom.: 1769 AF XY: 0.103 AC XY: 13824AN XY: 134230
GnomAD4 exome AF: 0.0880 AC: 128533AN: 1461300Hom.: 6363 Cov.: 32 AF XY: 0.0882 AC XY: 64153AN XY: 726968
GnomAD4 genome AF: 0.0929 AC: 14139AN: 152270Hom.: 769 Cov.: 33 AF XY: 0.0952 AC XY: 7087AN XY: 74464
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 09, 2021 | This variant is associated with the following publications: (PMID: 9080262, 29670643, 22774474, 11380082, 21529759, 23729572, 21289629, 21358132, 20008926, 20069060, 11564599, 17225053, 19553224, 22550477, 19133996, 21285172, 21034552, 19080138, 7487991, 28456594, 23968135, 20078877, 23032405) - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Obesity Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Oct 01, 2004 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at