Classification
Category 4
curation
CMH MAF
33 /
14969 samples
(0.22%)
33 het.,
0 hom.
(100%)
33 /
29938 total alleles
(0.11%)
Genes
gene: COQ8A
synonym(s): ARCA2, CABC1, COQ10D4, COQ8, SCAR9, ADCK3, COQ8A, ENSG00000163050
NM_020247.4
[CDS]
Reportable
hgvs_c: NM_020247.4:c.238C>T
reference AA: H
variant AA: Y
reference codon: Cac
variant codon: Tac
cDNA pos: 410
CDS pos: 238
translation impact: non_synonymous
protein sequence:
NP_064632.2
AA pos: 80
hgvs_p: NP_064632.2:p.His80Tyr
blosum: 2
SIFT: deleterious_low_confidence (0.03)
PolyPhen2: benign (0.001)
dbSNP
rs76249490
GMAF = 0.01558
TOPMED_MAF = 0.00392615953109072
ClinVar
214026
clinvar_significance = Benign_Likely_benign
clinvar_disease = Autosomal recessive cerebellar ataxia
clinvar_disease = Coenzyme Q10 deficiency
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.000227,0.000308
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10334 |
0.0194% |
| America/Latino |
3 / 11548 |
0.026% |
| East Asian |
432 / 8642 |
5% |
| Finnish |
1 / 6610 |
0.0151% |
| Non-Finnish |
7 / 66292 |
0.0106% |
| Other |
4 / 902 |
0.443% |
| South Asian |
328 / 16506 |
1.99% |
| Total MAF |
777 / 120834 |
0.643% |
COSMIC
COSMIC Mutation ID = COSV64656787
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 24944 |
0.0241% |
| America/Latino |
6 / 35436 |
0.0169% |
| Ashkenazi Jewish |
9 / 10360 |
0.0869% |
| East Asian |
1059 / 19952 |
5.31% |
| Finnish |
2 / 25112 |
0.00796% |
| Non-Finnish |
28 / 129036 |
0.0217% |
| Other |
32 / 7226 |
0.443% |
| South Asian |
632 / 30612 |
2.06% |
| Korean |
130 / 3818 |
3.4% |
| Japanese |
1 / 152 |
0.658% |
| Other East Asian |
842 / 14422 |
5.84% |
| Bulgarian |
1 / 2670 |
0.0375% |
| Estonian |
16 / 4830 |
0.331% |
| North-Western European |
2 / 50774 |
0.00394% |
| Southern European |
1 / 11600 |
0.00862% |
| Swedish |
4 / 26114 |
0.0153% |
| Other non-Finnish European |
4 / 33048 |
0.0121% |
| Total MAF |
1774 / 282678 |
0.628% |
curated_classification = 4
Export Variant