4-83264271-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_001358921.2(COQ2):c.1044C>T(p.Val348Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000937 in 1,610,706 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 (★★).
Frequency
Consequence
NM_001358921.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000541 AC: 82AN: 151476Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000117 AC: 29AN: 246928Hom.: 0 AF XY: 0.0000746 AC XY: 10AN XY: 134084
GnomAD4 exome AF: 0.0000473 AC: 69AN: 1459114Hom.: 0 Cov.: 30 AF XY: 0.0000455 AC XY: 33AN XY: 725836
GnomAD4 genome AF: 0.000541 AC: 82AN: 151592Hom.: 0 Cov.: 32 AF XY: 0.000513 AC XY: 38AN XY: 74024
ClinVar
Submissions by phenotype
not provided Benign:4
COQ2: BP4, BP7 -
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Coenzyme Q10 deficiency, primary, 1;C3714927:Multiple system atrophy 1, susceptibility to Benign:1
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COQ2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at