Classification
Category 4
curation
CMH MAF
44 /
13144 samples
(0.335%)
43 het.,
1 hom.
(97.7%)
45 /
26288 total alleles
(0.171%)
Genes
gene: FMN2
synonym(s): FMN2, ENSG00000155816
NM_020066.4
[CDS]
Reportable
hgvs_c: NM_020066.4:c.674_676dupAGC
variant AA: Q
variant codon: CAG
cDNA pos: 882
CDS pos: 657
translation impact: in_frame_indel
protein sequence:
NP_064450.3
AA pos: 219
hgvs_p: NP_064450.3:p.Gln225dup
dbSNP
rs532298569
GMAF = 0.008187
TOPMED_MAF = 0.00981938073394495
ClinVar
435215
clinvar_significance = Benign
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
612 / 22442 |
2.73% |
| America/Latino |
57 / 32672 |
0.174% |
| Ashkenazi Jewish |
0 / 9414 |
0% |
| East Asian |
1 / 18358 |
0.00545% |
| Finnish |
0 / 23298 |
0% |
| Non-Finnish |
12 / 113450 |
0.0106% |
| Other |
5 / 6636 |
0.0753% |
| South Asian |
2 / 28540 |
0.00701% |
| Korean |
0 / 3692 |
0% |
| Japanese |
0 / 90 |
0% |
| Other East Asian |
1 / 13016 |
0.00768% |
| Bulgarian |
0 / 2388 |
0% |
| Estonian |
0 / 4768 |
0% |
| North-Western European |
6 / 45950 |
0.0131% |
| Southern European |
2 / 9474 |
0.0211% |
| Swedish |
0 / 22170 |
0% |
| Other non-Finnish European |
4 / 28700 |
0.0139% |
| Total MAF |
689 / 254810 |
0.27% |
curated_classification = 4
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