Classification
Category 4
curation
CMH MAF
141 /
13144 samples
(1.07%)
139 het.,
2 hom.
(98.6%)
143 /
26288 total alleles
(0.544%)
Genes
gene: FMN2
synonym(s): FMN2, ENSG00000155816
NM_020066.4
[CDS]
Reportable
hgvs_c: NM_020066.4:c.2657T>G
reference AA: M
variant AA: R
reference codon: aTg
variant codon: aGg
cDNA pos: 2882
CDS pos: 2657
translation impact: non_synonymous
protein sequence:
NP_064450.3
AA pos: 886
hgvs_p: NP_064450.3:p.Met886Arg
blosum: -1
PolyPhen2: unknown (0.0)
dbSNP
rs146874723
GMAF = 0.002796
TOPMED_MAF = 0.00402968909276248
ClinVar
445849
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.007442,0.001589,0.005459
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
11 / 10376 |
0.106% |
| America/Latino |
25 / 11572 |
0.216% |
| East Asian |
0 / 8652 |
0% |
| Finnish |
168 / 6612 |
2.54% |
| Non-Finnish |
521 / 66466 |
0.784% |
| Other |
8 / 908 |
0.881% |
| South Asian |
27 / 16504 |
0.164% |
| Total MAF |
760 / 121090 |
0.628% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
19 / 24810 |
0.0766% |
| America/Latino |
67 / 35392 |
0.189% |
| Ashkenazi Jewish |
6 / 10302 |
0.0582% |
| East Asian |
0 / 19948 |
0% |
| Finnish |
547 / 25106 |
2.18% |
| Non-Finnish |
941 / 128704 |
0.731% |
| Other |
55 / 7190 |
0.765% |
| South Asian |
62 / 30608 |
0.203% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
20 / 2668 |
0.75% |
| Estonian |
58 / 4702 |
1.23% |
| North-Western European |
327 / 50592 |
0.646% |
| Southern European |
41 / 11596 |
0.354% |
| Swedish |
253 / 26114 |
0.969% |
| Other non-Finnish European |
242 / 33032 |
0.733% |
| Total MAF |
1697 / 282060 |
0.602% |
curated_classification = 4
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