Classification
Category 3
non_synonymous
CMH MAF
10 /
13144 samples
(0.0761%)
10 het.,
0 hom.
(100%)
10 /
26288 total alleles
(0.038%)
Genes
gene: FMN2
synonym(s): FMN2, ENSG00000155816
NM_020066.4
[CDS]
Reportable
hgvs_c: NM_020066.4:c.4123C>A
reference AA: L
variant AA: I
reference codon: Ctt
variant codon: Att
cDNA pos: 4348
CDS pos: 4123
translation impact: non_synonymous
protein sequence:
NP_064450.3
AA pos: 1375
hgvs_p: NP_064450.3:p.Leu1375Ile
blosum: 2
PolyPhen2: probably_damaging (0.928)
dbSNP
rs146873580
TOPMED_MAF = 0.00022298674821610
ClinVar
376966
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.000000,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10362 |
0% |
| America/Latino |
1 / 11558 |
0.00865% |
| East Asian |
0 / 8650 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
25 / 66648 |
0.0375% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16502 |
0% |
| Total MAF |
26 / 121240 |
0.0214% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24904 |
0% |
| America/Latino |
12 / 34796 |
0.0345% |
| Ashkenazi Jewish |
0 / 10358 |
0% |
| East Asian |
0 / 19892 |
0% |
| Finnish |
0 / 24966 |
0% |
| Non-Finnish |
41 / 128630 |
0.0319% |
| Other |
0 / 7172 |
0% |
| South Asian |
0 / 29898 |
0% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14364 |
0% |
| Bulgarian |
2 / 2668 |
0.075% |
| Estonian |
1 / 4826 |
0.0207% |
| North-Western European |
19 / 50478 |
0.0376% |
| Southern European |
7 / 11596 |
0.0604% |
| Swedish |
2 / 26098 |
0.00766% |
| Other non-Finnish European |
10 / 32964 |
0.0303% |
| Total MAF |
53 / 280616 |
0.0189% |
Export Variant