Classification
Category 3
non_synonymous
CMH MAF
12 /
13144 samples
(0.0913%)
12 het.,
0 hom.
(100%)
12 /
26288 total alleles
(0.0456%)
Genes
gene: NCF2
synonym(s): NCF-2, NOXA2, P67-PHOX, P67PHOX, NCF2, ENSG00000116701
NM_000433.3
[CDS]
Reportable
hgvs_c: NM_000433.3:c.938C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1213
CDS pos: 938
translation impact: non_synonymous
protein sequence:
NP_000424.2
AA pos: 313
hgvs_p: NP_000424.2:p.Pro313Leu
blosum: -3
SIFT: tolerated (0.49)
PolyPhen2: benign (0.003)
NM_001127651.2
[CDS]
hgvs_c: NM_001127651.2:c.938C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1050
CDS pos: 938
translation impact: non_synonymous
protein sequence:
NP_001121123.1
AA pos: 313
hgvs_p: NP_001121123.1:p.Pro313Leu
blosum: -3
SIFT: tolerated (0.49)
PolyPhen2: benign (0.003)
NM_001190789.1
[CDS]
hgvs_c: NM_001190789.1:c.695C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 970
CDS pos: 695
translation impact: non_synonymous
protein sequence:
NP_001177718.1
AA pos: 232
hgvs_p: NP_001177718.1:p.Pro232Leu
blosum: -3
SIFT: tolerated (0.46)
PolyPhen2: benign (0.002)
NM_001190794.1
[CDS]
hgvs_c: NM_001190794.1:c.803C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1078
CDS pos: 803
translation impact: non_synonymous
protein sequence:
NP_001177723.1
AA pos: 268
hgvs_p: NP_001177723.1:p.Pro268Leu
blosum: -3
SIFT: tolerated (0.59)
PolyPhen2: benign (0.001)
dbSNP
rs137937390
GMAF = 0.0009984
TOPMED_MAF = 0.00078841743119266
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000908,0.000308
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
24 / 10406 |
0.231% |
| America/Latino |
0 / 11576 |
0% |
| East Asian |
4 / 8654 |
0.0462% |
| Finnish |
0 / 6606 |
0% |
| Non-Finnish |
6 / 66732 |
0.00899% |
| Other |
0 / 908 |
0% |
| South Asian |
1 / 16512 |
0.00606% |
| Total MAF |
35 / 121394 |
0.0288% |
COSMIC
COSMIC Mutation ID = COSV62315066
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
54 / 24954 |
0.216% |
| America/Latino |
4 / 35436 |
0.0113% |
| Ashkenazi Jewish |
0 / 10362 |
0% |
| East Asian |
3 / 19954 |
0.015% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
8 / 129122 |
0.0062% |
| Other |
1 / 7226 |
0.0138% |
| South Asian |
4 / 30616 |
0.0131% |
| Korean |
3 / 3818 |
0.0786% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
2 / 2670 |
0.0749% |
| Estonian |
0 / 4820 |
0% |
| North-Western European |
2 / 50774 |
0.00394% |
| Southern European |
4 / 11606 |
0.0345% |
| Swedish |
0 / 26134 |
0% |
| Other non-Finnish European |
0 / 33118 |
0% |
| Total MAF |
74 / 282792 |
0.0262% |
Export Variant