4-83264281-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001358921.2(COQ2):āc.1034T>Cā(p.Leu345Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000558 in 1,612,090 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001358921.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247602Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134414
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459968Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726310
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74300
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1184T>C (p.L395S) alteration is located in exon 7 (coding exon 7) of the COQ2 gene. This alteration results from a T to C substitution at nucleotide position 1184, causing the leucine (L) at amino acid position 395 to be replaced by a serine (S). 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