Classification
Category 3
non_synonymous
CMH MAF
83 /
13144 samples
(0.631%)
83 het.,
0 hom.
(100%)
83 /
26288 total alleles
(0.316%)
Genes
gene: CNTN2
synonym(s): AXT, TAG-1, TAX, TAX1, CNTN2, ENSG00000184144
NM_005076.3
[CDS]
Reportable
hgvs_c: NM_005076.3:c.505C>T
reference AA: L
variant AA: F
reference codon: Ctc
variant codon: Ttc
cDNA pos: 774
CDS pos: 505
translation impact: non_synonymous
protein sequence:
NP_005067.1
AA pos: 169
hgvs_p: NP_005067.1:p.Leu169Phe
blosum: 0
SIFT: tolerated (0.28)
PolyPhen2: benign (0.088)
dbSNP
rs142502980
GMAF = 0.002596
TOPMED_MAF = 0.00250063710499490
ClinVar
445932
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Epilepsy
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.004186,0.000908,0.003076
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 10364 |
0.0675% |
| America/Latino |
21 / 11546 |
0.182% |
| East Asian |
0 / 8644 |
0% |
| Finnish |
3 / 6582 |
0.0456% |
| Non-Finnish |
276 / 66514 |
0.415% |
| Other |
1 / 900 |
0.111% |
| South Asian |
16 / 16486 |
0.0971% |
| Total MAF |
324 / 121036 |
0.268% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
20 / 24972 |
0.0801% |
| America/Latino |
75 / 35424 |
0.212% |
| Ashkenazi Jewish |
5 / 10368 |
0.0482% |
| East Asian |
1 / 19952 |
0.00501% |
| Finnish |
12 / 25122 |
0.0478% |
| Non-Finnish |
549 / 129052 |
0.425% |
| Other |
24 / 7220 |
0.332% |
| South Asian |
33 / 30616 |
0.108% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
1 / 14422 |
0.00693% |
| Bulgarian |
7 / 2670 |
0.262% |
| Estonian |
4 / 4830 |
0.0828% |
| North-Western European |
226 / 50710 |
0.446% |
| Southern European |
50 / 11608 |
0.431% |
| Swedish |
111 / 26130 |
0.425% |
| Other non-Finnish European |
151 / 33104 |
0.456% |
| Total MAF |
719 / 282726 |
0.254% |
Export Variant