Classification
Category 3
non_synonymous
CMH MAF
15 /
13144 samples
(0.114%)
15 het.,
0 hom.
(100%)
15 /
26288 total alleles
(0.0571%)
Genes
gene: MYO3A
synonym(s): DFNB30, MYO3A, ENSG00000095777
NM_017433.4
[CDS]
Reportable
hgvs_c: NM_017433.4:c.1828A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 2188
CDS pos: 1828
translation impact: non_synonymous
protein sequence:
NP_059129.3
AA pos: 610
hgvs_p: NP_059129.3:p.Ile610Val
blosum: 3
SIFT: tolerated (0.09)
PolyPhen2: benign (0.075)
dbSNP
rs151254539
TOPMED_MAF = 0.00015131243628950
ClinVar
445495
clinvar_significance = Uncertain_significance
clinvar_disease = Deafness
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000233,0.000000,0.000154
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10404 |
0% |
| America/Latino |
10 / 11572 |
0.0864% |
| East Asian |
0 / 8608 |
0% |
| Finnish |
0 / 6610 |
0% |
| Non-Finnish |
18 / 66722 |
0.027% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
28 / 121334 |
0.0231% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24964 |
0% |
| America/Latino |
24 / 35440 |
0.0677% |
| Ashkenazi Jewish |
11 / 10360 |
0.106% |
| East Asian |
0 / 19920 |
0% |
| Finnish |
0 / 25116 |
0% |
| Non-Finnish |
28 / 128988 |
0.0217% |
| Other |
1 / 7220 |
0.0139% |
| South Asian |
2 / 30610 |
0.00653% |
| Korean |
0 / 3784 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4834 |
0% |
| North-Western European |
8 / 50700 |
0.0158% |
| Southern European |
9 / 11598 |
0.0776% |
| Swedish |
2 / 26130 |
0.00765% |
| Other non-Finnish European |
9 / 33056 |
0.0272% |
| Total MAF |
66 / 282618 |
0.0234% |
Export Variant