Classification
Category 4
curation
CMH MAF
487 /
13144 samples
(3.71%)
477 het.,
10 hom.
(97.9%)
497 /
26288 total alleles
(1.89%)
Genes
gene: FMN2
synonym(s): FMN2, ENSG00000155816
NM_020066.4
[CDS]
Reportable
hgvs_c: NM_020066.4:c.2855C>G
reference AA: A
variant AA: G
reference codon: gCa
variant codon: gGa
cDNA pos: 3080
CDS pos: 2855
translation impact: non_synonymous
protein sequence:
NP_064450.3
AA pos: 952
hgvs_p: NP_064450.3:p.Ala952Gly
blosum: 0
PolyPhen2: unknown (0.0)
dbSNP
rs200503778
TOPMED_MAF = 0.02795298165137614
ClinVar
377218
clinvar_significance = Likely_benign
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
11 / 9316 |
0.118% |
| America/Latino |
11 / 11336 |
0.097% |
| East Asian |
3 / 8534 |
0.0352% |
| Finnish |
22 / 6560 |
0.335% |
| Non-Finnish |
193 / 63214 |
0.305% |
| Other |
3 / 840 |
0.357% |
| South Asian |
250 / 14824 |
1.69% |
| Total MAF |
493 / 114624 |
0.43% |
COSMIC
COSMIC Mutation ID = COSV60420680
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
35 / 12856 |
0.272% |
| America/Latino |
63 / 28114 |
0.224% |
| Ashkenazi Jewish |
18 / 8088 |
0.223% |
| East Asian |
31 / 14938 |
0.208% |
| Finnish |
76 / 19982 |
0.38% |
| Non-Finnish |
380 / 98158 |
0.387% |
| Other |
21 / 4840 |
0.434% |
| South Asian |
488 / 25394 |
1.92% |
| Korean |
6 / 2990 |
0.201% |
| Japanese |
0 / 142 |
0% |
| Other East Asian |
25 / 11806 |
0.212% |
| Bulgarian |
10 / 2496 |
0.401% |
| Estonian |
2 / 204 |
0.98% |
| North-Western European |
140 / 32042 |
0.437% |
| Southern European |
22 / 10996 |
0.2% |
| Swedish |
96 / 25556 |
0.376% |
| Other non-Finnish European |
110 / 26864 |
0.409% |
| Total MAF |
1112 / 212370 |
0.524% |
curated_classification = 4
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