Classification
Category 3
non_synonymous
CMH MAF
9 /
14969 samples
(0.0601%)
9 het.,
0 hom.
(100%)
9 /
29938 total alleles
(0.0301%)
Genes
gene: COQ8A
synonym(s): ARCA2, CABC1, COQ10D4, COQ8, SCAR9, ADCK3, COQ8A, ENSG00000163050
NM_020247.4
[CDS]
Reportable
hgvs_c: NM_020247.4:c.989A>G
reference AA: Y
variant AA: C
reference codon: tAc
variant codon: tGc
cDNA pos: 1161
CDS pos: 989
translation impact: non_synonymous
protein sequence:
NP_064632.2
AA pos: 330
hgvs_p: NP_064632.2:p.Tyr330Cys
blosum: -2
SIFT: tolerated (0.16)
PolyPhen2: benign (0.033)
dbSNP
rs150243147
GMAF = 0.0003994
TOPMED_MAF = 0.00168832823649337
ClinVar
235765
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.004773,0.001616
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
34 / 7578 |
0.449% |
| America/Latino |
4 / 8232 |
0.0486% |
| East Asian |
0 / 6068 |
0% |
| Finnish |
0 / 4168 |
0% |
| Non-Finnish |
0 / 49820 |
0% |
| Other |
0 / 700 |
0% |
| South Asian |
0 / 13892 |
0% |
| Total MAF |
38 / 90458 |
0.042% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
93 / 24102 |
0.386% |
| America/Latino |
8 / 34994 |
0.0229% |
| Ashkenazi Jewish |
0 / 10170 |
0% |
| East Asian |
0 / 19582 |
0% |
| Finnish |
0 / 24432 |
0% |
| Non-Finnish |
0 / 124480 |
0% |
| Other |
1 / 7056 |
0.0142% |
| South Asian |
2 / 30272 |
0.00661% |
| Korean |
0 / 3700 |
0% |
| Japanese |
0 / 142 |
0% |
| Other East Asian |
0 / 14182 |
0% |
| Bulgarian |
0 / 2502 |
0% |
| Estonian |
0 / 4806 |
0% |
| North-Western European |
0 / 50144 |
0% |
| Southern European |
0 / 11206 |
0% |
| Swedish |
0 / 24458 |
0% |
| Other non-Finnish European |
0 / 31364 |
0% |
| Total MAF |
104 / 275088 |
0.0378% |
Export Variant