rs119468006
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PM5PP3_ModeratePP5
The NM_020247.5(COQ8A):c.815G>A(p.Gly272Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,457,104 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G272A) has been classified as Likely pathogenic.
Frequency
Consequence
NM_020247.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ8A | NM_020247.5 | c.815G>A | p.Gly272Asp | missense_variant | 6/15 | ENST00000366777.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.815G>A | p.Gly272Asp | missense_variant | 6/15 | 1 | NM_020247.5 | P1 | |
COQ8A | ENST00000366778.5 | c.659G>A | p.Gly220Asp | missense_variant | 6/15 | 1 | |||
COQ8A | ENST00000485462.5 | n.205G>A | non_coding_transcript_exon_variant | 2/11 | 1 | ||||
COQ8A | ENST00000478406.5 | n.266G>A | non_coding_transcript_exon_variant | 3/8 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1457104Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 724550
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Autosomal recessive ataxia due to ubiquinone deficiency Pathogenic:1Other:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 01, 2008 | - - |
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at