Classification
Category 4
curation
CMH MAF
24 /
13144 samples
(0.183%)
24 het.,
0 hom.
(100%)
24 /
26288 total alleles
(0.0913%)
Genes
gene: ESPN
synonym(s): DFNB36, LP2654, ESPN, ENSG00000187017
NM_031475.2
[CDS]
Reportable
hgvs_c: NM_031475.2:c.1104T>G
reference AA: F
variant AA: L
reference codon: ttT
variant codon: ttG
cDNA pos: 1272
CDS pos: 1104
translation impact: non_synonymous
protein sequence:
NP_113663.2
AA pos: 368
hgvs_p: NP_113663.2:p.Phe368Leu
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: benign (0.007)
dbSNP
rs142638391
GMAF = 0.003195
TOPMED_MAF = 0.00393412334352701
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.010213,0.003460
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
126 / 10406 |
1.21% |
| America/Latino |
6 / 11578 |
0.0518% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66722 |
0% |
| Other |
0 / 906 |
0% |
| South Asian |
0 / 16512 |
0% |
| Total MAF |
132 / 121392 |
0.109% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
331 / 24962 |
1.33% |
| America/Latino |
27 / 35432 |
0.0762% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
3 / 129184 |
0.00232% |
| Other |
5 / 7226 |
0.0692% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4832 |
0% |
| North-Western European |
2 / 50812 |
0.00394% |
| Southern European |
0 / 11610 |
0% |
| Swedish |
0 / 26132 |
0% |
| Other non-Finnish European |
1 / 33128 |
0.00302% |
| Total MAF |
366 / 282864 |
0.129% |
curated_classification = 4
Export Variant