chr1-226961442-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_020247.5(COQ8A):c.57C>G(p.Thr19=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00011 in 1,613,678 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. T19T) has been classified as Likely benign.
Frequency
Consequence
NM_020247.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ8A | NM_020247.5 | c.57C>G | p.Thr19= | synonymous_variant | 2/15 | ENST00000366777.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.57C>G | p.Thr19= | synonymous_variant | 2/15 | 1 | NM_020247.5 | P1 | |
COQ8A | ENST00000366778.5 | c.-34-66C>G | intron_variant | 1 | |||||
COQ8A | ENST00000489044.1 | n.268C>G | non_coding_transcript_exon_variant | 2/5 | 3 | ||||
COQ8A | ENST00000478406.5 | n.107-16007C>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251140Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135836
GnomAD4 exome AF: 0.000113 AC: 165AN: 1461446Hom.: 0 Cov.: 31 AF XY: 0.000110 AC XY: 80AN XY: 727040
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74374
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 03, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at