rs199619932
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020247.5(COQ8A):c.730G>A(p.Gly244Arg) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000214 in 1,404,896 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
NM_020247.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.730G>A | p.Gly244Arg | missense_variant, splice_region_variant | Exon 5 of 15 | 1 | NM_020247.5 | ENSP00000355739.3 | ||
ENSG00000288674 | ENST00000366779.6 | n.*5457G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 22 of 32 | 2 | ENSP00000355741.2 | ||||
ENSG00000288674 | ENST00000366779.6 | n.*5457G>A | 3_prime_UTR_variant | Exon 22 of 32 | 2 | ENSP00000355741.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000127 AC: 2AN: 157782Hom.: 0 AF XY: 0.0000238 AC XY: 2AN XY: 84072
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1404896Hom.: 0 Cov.: 31 AF XY: 0.00000433 AC XY: 3AN XY: 693476
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at