4-73065282-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001297732.2(COX18):c.566G>A(p.Arg189Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000726 in 1,612,640 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 Uncertain significance (★).
Frequency
Consequence
NM_001297732.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000530 AC: 8AN: 151012Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251382Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135874
GnomAD4 exome AF: 0.0000746 AC: 109AN: 1461522Hom.: 0 Cov.: 32 AF XY: 0.0000949 AC XY: 69AN XY: 727072
GnomAD4 genome AF: 0.0000529 AC: 8AN: 151118Hom.: 0 Cov.: 31 AF XY: 0.0000814 AC XY: 6AN XY: 73728
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.566G>A (p.R189Q) alteration is located in exon 3 (coding exon 3) of the COX18 gene. This alteration results from a G to A substitution at nucleotide position 566, causing the arginine (R) at amino acid position 189 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at