Classification
Category 3
curation
CMH MAF
34 /
14969 samples
(0.227%)
34 het.,
0 hom.
(100%)
34 /
29938 total alleles
(0.114%)
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.1234C>T
reference AA: H
variant AA: Y
reference codon: Cac
variant codon: Tac
cDNA pos: 1547
CDS pos: 1234
translation impact: non_synonymous
protein sequence:
NP_065168.2
AA pos: 412
hgvs_p: NP_065168.2:p.His412Tyr
blosum: 2
SIFT: deleterious (0.03)
PolyPhen2: benign (0.004)
dbSNP
rs200334298
TOPMED_MAF = 0.00112289755351681
ClinVar
445910
clinvar_significance = Uncertain_significance
clinvar_disease = Spastic paraplegia
clinvar_disease = Leukodystrophy
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 3552 |
0.0282% |
| America/Latino |
2 / 7796 |
0.0257% |
| East Asian |
0 / 5036 |
0% |
| Finnish |
3 / 2022 |
0.148% |
| Non-Finnish |
78 / 31784 |
0.245% |
| Other |
0 / 468 |
0% |
| South Asian |
0 / 12518 |
0% |
| Total MAF |
84 / 63176 |
0.133% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 21098 |
0.00474% |
| America/Latino |
8 / 34526 |
0.0232% |
| Ashkenazi Jewish |
6 / 9822 |
0.0611% |
| East Asian |
0 / 18736 |
0% |
| Finnish |
8 / 22164 |
0.0361% |
| Non-Finnish |
161 / 114842 |
0.14% |
| Other |
4 / 6682 |
0.0599% |
| South Asian |
2 / 29370 |
0.00681% |
| Korean |
0 / 3700 |
0% |
| Japanese |
0 / 32 |
0% |
| Other East Asian |
0 / 13444 |
0% |
| Bulgarian |
15 / 1384 |
1.08% |
| Estonian |
9 / 4736 |
0.19% |
| North-Western European |
48 / 46994 |
0.102% |
| Southern European |
25 / 10434 |
0.24% |
| Swedish |
13 / 22762 |
0.0571% |
| Other non-Finnish European |
51 / 28532 |
0.179% |
| Total MAF |
190 / 257240 |
0.0739% |
curated_classification = 3
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