rs144147839
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_020247.5(COQ8A):c.1286A>G(p.Tyr429Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000258 in 1,613,492 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y429H) has been classified as Uncertain significance.
Frequency
Consequence
NM_020247.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COQ8A | NM_020247.5 | c.1286A>G | p.Tyr429Cys | missense_variant | 11/15 | ENST00000366777.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COQ8A | ENST00000366777.4 | c.1286A>G | p.Tyr429Cys | missense_variant | 11/15 | 1 | NM_020247.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000243 AC: 37AN: 152014Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000311 AC: 78AN: 250510Hom.: 0 AF XY: 0.000302 AC XY: 41AN XY: 135712
GnomAD4 exome AF: 0.000259 AC: 379AN: 1461478Hom.: 1 Cov.: 38 AF XY: 0.000292 AC XY: 212AN XY: 727066
GnomAD4 genome ? AF: 0.000243 AC: 37AN: 152014Hom.: 0 Cov.: 33 AF XY: 0.000323 AC XY: 24AN XY: 74228
ClinVar
Submissions by phenotype
Autosomal recessive ataxia due to ubiquinone deficiency Uncertain:3
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Jul 09, 2020 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 28, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 31, 2018 | - - |
not provided Uncertain:2Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 26, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Athena Diagnostics | Apr 07, 2022 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Mar 24, 2016 | The Y429C missense mutation in the ADCK3 gene has been reported previously in association with adult-onset cerebellar ataxia according to the Human Gene Mutation Database (Hovarth et al., 2012). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at