Classification
Category 4
curation
CMH MAF
103 /
14969 samples
(0.688%)
100 het.,
3 hom.
(97.1%)
106 /
29938 total alleles
(0.354%)
Genes
gene: GJC2
synonym(s): CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, GJC2, ENSG00000198835
NM_020435.3
[CDS]
Reportable
hgvs_c: NM_020435.3:c.108C>T
reference AA: I
variant AA: I
reference codon: atC
variant codon: atT
cDNA pos: 421
CDS pos: 108
translation impact: synonymous
protein sequence:
NP_065168.2
AA pos: 36
hgvs_p: NP_065168.2:p.Ile36=
blosum: 4
dbSNP
rs75469429
GMAF = 0.01298
TOPMED_MAF = 0.01208110346585117
ClinVar
235758
clinvar_significance = Benign_Likely_benign
clinvar_disease = Spastic paraplegia
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.034334,0.011617
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
395 / 7746 |
5.1% |
| America/Latino |
15 / 9292 |
0.161% |
| East Asian |
0 / 7312 |
0% |
| Finnish |
0 / 3512 |
0% |
| Non-Finnish |
4 / 52568 |
0.00761% |
| Other |
2 / 624 |
0.321% |
| South Asian |
1 / 13512 |
0.0074% |
| Total MAF |
417 / 94566 |
0.441% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
985 / 24116 |
4.08% |
| America/Latino |
69 / 35034 |
0.197% |
| Ashkenazi Jewish |
1 / 10188 |
0.00982% |
| East Asian |
0 / 19776 |
0% |
| Finnish |
0 / 24388 |
0% |
| Non-Finnish |
8 / 125504 |
0.00637% |
| Other |
14 / 7100 |
0.197% |
| South Asian |
4 / 30092 |
0.0133% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 108 |
0% |
| Other East Asian |
0 / 14292 |
0% |
| Bulgarian |
0 / 2474 |
0% |
| Estonian |
0 / 4782 |
0% |
| North-Western European |
3 / 49544 |
0.00606% |
| Southern European |
4 / 11270 |
0.0355% |
| Swedish |
0 / 25636 |
0% |
| Other non-Finnish European |
1 / 31798 |
0.00314% |
| Total MAF |
1081 / 276198 |
0.391% |
curated_classification = 4
Export Variant