Classification
Category 3
curation
CMH MAF
24 /
14969 samples
(0.16%)
24 het.,
0 hom.
(100%)
24 /
29938 total alleles
(0.0802%)
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.556G>T
reference AA: G
variant AA: C
reference codon: Ggc
variant codon: Tgc
cDNA pos: 869
CDS pos: 556
translation impact: non_synonymous
protein sequence:
NP_065168.2
AA pos: 186
hgvs_p: NP_065168.2:p.Gly186Cys
blosum: -3
SIFT: deleterious (0.01)
PolyPhen2: possibly_damaging (0.493)
dbSNP
rs201277546
TOPMED_MAF = 0.00067692405708460
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000496,0.000000,0.000326
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 1042 |
0.096% |
| America/Latino |
0 / 384 |
0% |
| East Asian |
0 / 424 |
0% |
| Finnish |
0 / 178 |
0% |
| Non-Finnish |
18 / 6104 |
0.295% |
| Other |
0 / 142 |
0% |
| South Asian |
14 / 7712 |
0.182% |
| Total MAF |
33 / 15986 |
0.206% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 17504 |
0.0343% |
| America/Latino |
2 / 26868 |
0.00744% |
| Ashkenazi Jewish |
1 / 8680 |
0.0115% |
| East Asian |
0 / 13514 |
0% |
| Finnish |
1 / 12962 |
0.00771% |
| Non-Finnish |
95 / 79420 |
0.12% |
| Other |
1 / 5526 |
0.0181% |
| South Asian |
22 / 25252 |
0.0871% |
| Korean |
0 / 2538 |
0% |
| Japanese |
0 / 30 |
0% |
| Other East Asian |
0 / 9388 |
0% |
| Bulgarian |
0 / 1070 |
0% |
| Estonian |
1 / 4706 |
0.0212% |
| North-Western European |
65 / 41298 |
0.157% |
| Southern European |
1 / 3390 |
0.0295% |
| Swedish |
10 / 8340 |
0.12% |
| Other non-Finnish European |
18 / 20616 |
0.0873% |
| Total MAF |
128 / 189726 |
0.0675% |
curated_classification = 3
Export Variant