chr1-226986590-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 2P and 17B. PM2BP4_StrongBP6_Very_StrongBP7BS1
The NM_020247.5(COQ8A):c.1797C>T(p.Leu599Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000164 in 1,613,888 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_020247.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.1797C>T | p.Leu599Leu | synonymous_variant | Exon 15 of 15 | 1 | NM_020247.5 | ENSP00000355739.3 | ||
ENSG00000288674 | ENST00000366779.6 | n.*6524C>T | non_coding_transcript_exon_variant | Exon 32 of 32 | 2 | ENSP00000355741.2 | ||||
ENSG00000288674 | ENST00000366779.6 | n.*6524C>T | 3_prime_UTR_variant | Exon 32 of 32 | 2 | ENSP00000355741.2 |
Frequencies
GnomAD3 genomes AF: 0.000843 AC: 128AN: 151894Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000243 AC: 61AN: 251452Hom.: 0 AF XY: 0.000250 AC XY: 34AN XY: 135914
GnomAD4 exome AF: 0.0000930 AC: 136AN: 1461876Hom.: 0 Cov.: 33 AF XY: 0.0000880 AC XY: 64AN XY: 727236
GnomAD4 genome AF: 0.000842 AC: 128AN: 152012Hom.: 0 Cov.: 32 AF XY: 0.000942 AC XY: 70AN XY: 74278
ClinVar
Submissions by phenotype
not specified Benign:1
- -
COQ8A-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). -
not provided Benign:1
- -
Autosomal recessive ataxia due to ubiquinone deficiency Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at