Classification
Category 4
curation
CMH MAF
9 /
13144 samples
(0.0685%)
9 het.,
0 hom.
(100%)
9 /
26288 total alleles
(0.0342%)
Genes
gene: SKI
synonym(s): SGS, SKV, SKI, ENSG00000157933
NM_003036.3
[CDS]
Reportable
hgvs_c: NM_003036.3:c.1196C>T
reference AA: A
variant AA: V
reference codon: gCc
variant codon: gTc
cDNA pos: 1268
CDS pos: 1196
translation impact: non_synonymous
protein sequence:
NP_003027.1
AA pos: 399
hgvs_p: NP_003027.1:p.Ala399Val
blosum: 0
SIFT: tolerated (0.06)
PolyPhen2: benign (0.164)
dbSNP
rs141862996
GMAF = 0.001198
TOPMED_MAF = 0.00185556829765545
ClinVar
213692
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Shprintzen-Goldberg syndrome
clinvar_disease = Cardiovascular phenotype
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.003404,0.001384
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
44 / 10328 |
0.426% |
| America/Latino |
0 / 11564 |
0% |
| East Asian |
0 / 8634 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
10 / 66264 |
0.0151% |
| Other |
0 / 898 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
54 / 120812 |
0.0447% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
125 / 24936 |
0.501% |
| America/Latino |
6 / 35430 |
0.0169% |
| Ashkenazi Jewish |
0 / 10346 |
0% |
| East Asian |
0 / 19946 |
0% |
| Finnish |
0 / 24778 |
0% |
| Non-Finnish |
12 / 128852 |
0.00931% |
| Other |
2 / 7202 |
0.0278% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14418 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 4832 |
0% |
| North-Western European |
1 / 50706 |
0.00197% |
| Southern European |
5 / 11600 |
0.0431% |
| Swedish |
1 / 26098 |
0.00383% |
| Other non-Finnish European |
5 / 32948 |
0.0152% |
| Total MAF |
145 / 282106 |
0.0514% |
curated_classification = 4
Export Variant