Classification
Category 4
CMH MAF
79 /
11422 samples
(0.692%)
77 het.,
2 hom.
(97.5%)
81 /
22844 total alleles
(0.355%)
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
clinvar_submission_scv = SCV000281595.1
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 |
959 / 23258 |
4.12% |
| America/Latino |
64 / 34158 |
0.187% |
| Ashkenazi Jewish |
1 / 10006 |
0.00999% |
| East Asian |
0 / 18720 |
0% |
| Finnish |
0 / 24960 |
0% |
| Non-Finnish |
8 / 123446 |
0.00648% |
| Other |
13 / 6356 |
0.205% |
| South Asian |
4 / 30260 |
0.0132% |
| Total MAF |
1049 / 271164 |
0.387% |
Export Variant