NM_001104.4:c.1568G>A
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001104.4(ACTN3):c.1568G>A(p.Arg523Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.555 in 1,608,268 control chromosomes in the GnomAD database, including 252,795 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Synonymous variant affecting the same amino acid position (i.e. R523R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001104.4 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACTN3 | ENST00000513398.2 | c.1568G>A | p.Arg523Gln | missense_variant | Exon 14 of 21 | 1 | NM_001104.4 | ENSP00000426797.1 | ||
ACTN3 | ENST00000502692.5 | c.1697G>A | p.Arg566Gln | missense_variant | Exon 14 of 21 | 2 | ENSP00000422007.1 | |||
ENSG00000250105 | ENST00000504911.1 | n.183C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.612 AC: 92985AN: 151952Hom.: 29675 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.534 AC: 126656AN: 237270 AF XY: 0.534 show subpopulations
GnomAD4 exome AF: 0.549 AC: 799593AN: 1456200Hom.: 223067 Cov.: 74 AF XY: 0.547 AC XY: 395601AN XY: 723868 show subpopulations
GnomAD4 genome AF: 0.612 AC: 93085AN: 152068Hom.: 29728 Cov.: 32 AF XY: 0.611 AC XY: 45386AN XY: 74298 show subpopulations
ClinVar
Submissions by phenotype
ACTN3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at