Classification
Category 3
non_synonymous
CMH MAF
15 /
13144 samples
(0.114%)
15 het.,
0 hom.
(100%)
15 /
26288 total alleles
(0.0571%)
Genes
gene: SDCCAG8
synonym(s): BBS16, CCCAP, SDCCAG8, ENSG00000054282
NM_006642.3
[CDS]
Reportable
hgvs_c: NM_006642.3:c.1094G>A
reference AA: R
variant AA: K
reference codon: aGg
variant codon: aAg
cDNA pos: 1263
CDS pos: 1094
translation impact: non_synonymous
protein sequence:
NP_006633.1
AA pos: 365
hgvs_p: NP_006633.1:p.Arg365Lys
blosum: 2
SIFT: tolerated (1.0)
PolyPhen2: benign (0.005)
dbSNP
rs115098969
GMAF = 0.001398
TOPMED_MAF = 0.00225375891946992
ClinVar
193691
clinvar_significance = Likely_benign
clinvar_disease = Senior-Loken syndrome 7
clinvar_disease = Bardet-Biedl syndrome 16
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.007490,0.002537
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
76 / 10366 |
0.733% |
| America/Latino |
2 / 11576 |
0.0173% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
0 / 66708 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16508 |
0% |
| Total MAF |
78 / 121332 |
0.0643% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
180 / 24956 |
0.721% |
| America/Latino |
17 / 35438 |
0.048% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
0 / 25120 |
0% |
| Non-Finnish |
1 / 129116 |
0.000774% |
| Other |
1 / 7222 |
0.0138% |
| South Asian |
0 / 30612 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4828 |
0% |
| North-Western European |
0 / 50782 |
0% |
| Southern European |
1 / 11604 |
0.00862% |
| Swedish |
0 / 26124 |
0% |
| Other non-Finnish European |
0 / 33108 |
0% |
| Total MAF |
199 / 282788 |
0.0704% |
Export Variant