Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: FMN2
synonym(s): FMN2, ENSG00000155816
NM_020066.4
[CDS]
Reportable
hgvs_c: NM_020066.4:c.4259G>A
reference AA: R
variant AA: Q
reference codon: cGa
variant codon: cAa
cDNA pos: 4484
CDS pos: 4259
translation impact: non_synonymous
protein sequence:
NP_064450.3
AA pos: 1420
hgvs_p: NP_064450.3:p.Arg1420Gln
blosum: 1
PolyPhen2: benign (0.231)
dbSNP
rs1237723289
TOPMED_MAF = 0.00002389143730886
COSMIC
COSMIC Mutation ID = COSV60452229
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 16256 |
0% |
| America/Latino |
5 / 34578 |
0.0145% |
| Ashkenazi Jewish |
0 / 10070 |
0% |
| East Asian |
0 / 18348 |
0% |
| Finnish |
0 / 21646 |
0% |
| Non-Finnish |
0 / 113608 |
0% |
| Other |
0 / 6132 |
0% |
| South Asian |
0 / 30614 |
0% |
| Korean |
0 / 3772 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42118 |
0% |
| Southern European |
0 / 11492 |
0% |
| Swedish |
0 / 26132 |
0% |
| Other non-Finnish European |
0 / 30956 |
0% |
| Total MAF |
5 / 251252 |
0.00199% |
Export Variant
Curation
Uncertain Significance