Classification
Category 4
curation
CMH MAF
48 /
14969 samples
(0.321%)
48 het.,
0 hom.
(100%)
48 /
29938 total alleles
(0.16%)
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.1193C>T
reference AA: T
variant AA: I
reference codon: aCc
variant codon: aTc
cDNA pos: 1506
CDS pos: 1193
translation impact: non_synonymous
protein sequence:
NP_065168.2
AA pos: 398
hgvs_p: NP_065168.2:p.Thr398Ile
blosum: -1
SIFT: tolerated (0.32)
PolyPhen2: benign (0.307)
dbSNP
rs140942230
GMAF = 0.001797
TOPMED_MAF = 0.00112289755351681
ClinVar
241296
clinvar_significance = Likely_benign
clinvar_disease = Spastic paraplegia
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 1030 |
0.194% |
| America/Latino |
6 / 1866 |
0.322% |
| East Asian |
0 / 1116 |
0% |
| Finnish |
0 / 550 |
0% |
| Non-Finnish |
66 / 8374 |
0.788% |
| Other |
0 / 186 |
0% |
| South Asian |
21 / 8308 |
0.253% |
| Total MAF |
95 / 21430 |
0.443% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 17800 |
0.0337% |
| America/Latino |
28 / 31422 |
0.0891% |
| Ashkenazi Jewish |
20 / 8994 |
0.222% |
| East Asian |
0 / 16034 |
0% |
| Finnish |
0 / 16382 |
0% |
| Non-Finnish |
194 / 90926 |
0.213% |
| Other |
10 / 5968 |
0.168% |
| South Asian |
47 / 26842 |
0.175% |
| Korean |
0 / 3052 |
0% |
| Japanese |
0 / 20 |
0% |
| Other East Asian |
0 / 11406 |
0% |
| Bulgarian |
2 / 748 |
0.267% |
| Estonian |
6 / 4730 |
0.127% |
| North-Western European |
93 / 43266 |
0.215% |
| Southern European |
24 / 7076 |
0.339% |
| Swedish |
17 / 11706 |
0.145% |
| Other non-Finnish European |
52 / 23400 |
0.222% |
| Total MAF |
305 / 214368 |
0.142% |
curated_classification = 4
Export Variant