Classification
Category 1
CMH MAF
12 /
13144 samples
(0.0913%)
12 het.,
0 hom.
(100%)
12 /
26288 total alleles
(0.0456%)
Genes
gene: EARS2
synonym(s): COXPD12, MSE1, EARS2, ENSG00000103356
NM_001083614.1
[CDS]
Reportable
hgvs_c: NM_001083614.1:c.322C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 354
CDS pos: 322
translation impact: non_synonymous
protein sequence:
NP_001077083.1
AA pos: 108
hgvs_p: NP_001077083.1:p.Arg108Trp
blosum: -3
SIFT: deleterious (0.03)
PolyPhen2: possibly_damaging (0.893)
NR_003501.1
[exon]
hgvs_c: NR_003501.1:n.354C>T
cDNA pos: 354
dbSNP
rs376103091
TOPMED_MAF = 0.00020705912334352
ClinVar
39787
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = High palate
clinvar_disease = Abnormality of the pinna
clinvar_disease = Seizures
clinvar_disease = Global developmental delay
clinvar_disease = Motor delay
clinvar_disease = Abnormal facial shape
clinvar_disease = Generalized tonic-clonic seizures
clinvar_disease = Prominent forehead
clinvar_disease = Limb tremor
clinvar_disease = Inborn genetic diseases
clinvar_disease = Combined oxidative phosphorylation deficiency 12
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000486,0.000000,0.000333
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 5864 |
0.0171% |
| America/Latino |
1 / 5372 |
0.0186% |
| East Asian |
0 / 5328 |
0% |
| Finnish |
0 / 3112 |
0% |
| Non-Finnish |
13 / 40430 |
0.0322% |
| Other |
2 / 506 |
0.395% |
| South Asian |
1 / 12208 |
0.00819% |
| Total MAF |
18 / 72820 |
0.0247% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 22424 |
0.0134% |
| America/Latino |
3 / 33550 |
0.00894% |
| Ashkenazi Jewish |
0 / 9878 |
0% |
| East Asian |
0 / 18560 |
0% |
| Finnish |
0 / 22796 |
0% |
| Non-Finnish |
30 / 119516 |
0.0251% |
| Other |
0 / 6736 |
0% |
| South Asian |
4 / 29146 |
0.0137% |
| Korean |
0 / 3774 |
0% |
| Japanese |
0 / 84 |
0% |
| Other East Asian |
0 / 13142 |
0% |
| Bulgarian |
3 / 2286 |
0.131% |
| Estonian |
0 / 4802 |
0% |
| North-Western European |
13 / 48928 |
0.0266% |
| Southern European |
6 / 10044 |
0.0597% |
| Swedish |
0 / 23344 |
0% |
| Other non-Finnish European |
8 / 30112 |
0.0266% |
| Total MAF |
40 / 262606 |
0.0152% |
Export Variant