rs74589348
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_020247.5(COQ8A):āc.1800C>Gā(p.Val600=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000139 in 1,613,838 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 (ā ā ). Synonymous variant affecting the same amino acid position (i.e. V600V) has been classified as Likely benign.
Frequency
Consequence
NM_020247.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ8A | NM_020247.5 | c.1800C>G | p.Val600= | synonymous_variant | 15/15 | ENST00000366777.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.1800C>G | p.Val600= | synonymous_variant | 15/15 | 1 | NM_020247.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000658 AC: 100AN: 151868Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000203 AC: 51AN: 251422Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135904
GnomAD4 exome AF: 0.0000841 AC: 123AN: 1461852Hom.: 0 Cov.: 33 AF XY: 0.0000825 AC XY: 60AN XY: 727220
GnomAD4 genome ? AF: 0.000671 AC: 102AN: 151986Hom.: 0 Cov.: 32 AF XY: 0.000714 AC XY: 53AN XY: 74264
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 24, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 20, 2020 | - - |
COQ8A-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 29, 2022 | 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