NM_001100.4:c.24C>T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001100.4(ACTA1):c.24C>T(p.Thr8Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000752 in 1,461,812 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T8T) has been classified as Likely benign.
Frequency
Consequence
NM_001100.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACTA1 | ENST00000366684.7 | c.24C>T | p.Thr8Thr | synonymous_variant | Exon 2 of 7 | 1 | NM_001100.4 | ENSP00000355645.3 | ||
ACTA1 | ENST00000366683.4 | c.24C>T | p.Thr8Thr | synonymous_variant | Exon 2 of 7 | 5 | ENSP00000355644.4 | |||
ACTA1 | ENST00000684723.1 | c.-6-212C>T | intron_variant | Intron 1 of 5 | ENSP00000508084.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251172Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135830
GnomAD4 exome AF: 0.00000752 AC: 11AN: 1461812Hom.: 0 Cov.: 38 AF XY: 0.0000110 AC XY: 8AN XY: 727224
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Actin accumulation myopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at