Classification
Category 4
non_synonymous
CMH MAF
19 /
9594 samples
(0.198%)
19 het.,
0 hom.
(100%)
19 /
19188 total alleles
(0.099%)
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
ClinVar
163413
clinvar_significance = Benign_Likely_benign
clinvar_submission_scv = SCV000511724.1
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 |
319 / 24024 |
1.33% |
| America/Latino |
26 / 34418 |
0.0755% |
| Ashkenazi Jewish |
0 / 10152 |
0% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
0 / 25792 |
0% |
| Non-Finnish |
3 / 126698 |
0.00237% |
| Other |
2 / 6468 |
0.0309% |
| South Asian |
0 / 30782 |
0% |
| Total MAF |
350 / 277202 |
0.126% |
Export Variant