chr11-66546544-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001258371.3(ACTN3):āc.34T>Cā(p.Cys12Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00183 in 1,535,326 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. 7/9 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001258371.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACTN3 | NM_001258371.3 | c.34T>C | p.Cys12Arg | missense_variant | 1/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTN3 | ENST00000502692.5 | c.34T>C | p.Cys12Arg | missense_variant | 1/21 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00155 AC: 235AN: 151888Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00142 AC: 182AN: 128284Hom.: 1 AF XY: 0.00149 AC XY: 105AN XY: 70250
GnomAD4 exome AF: 0.00186 AC: 2572AN: 1383320Hom.: 8 Cov.: 31 AF XY: 0.00184 AC XY: 1256AN XY: 682570
GnomAD4 genome AF: 0.00155 AC: 235AN: 152006Hom.: 0 Cov.: 32 AF XY: 0.00148 AC XY: 110AN XY: 74262
ClinVar
Submissions by phenotype
ACTN3-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 13, 2022 | This variant is classified as likely 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