Classification
Category 4
curation
CMH MAF
159 /
13144 samples
(1.21%)
159 het.,
0 hom.
(100%)
159 /
26288 total alleles
(0.605%)
Genes
gene: SKI
synonym(s): SGS, SKV, SKI, ENSG00000157933
NM_003036.3
[CDS]
Reportable
hgvs_c: NM_003036.3:c.1163C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 1235
CDS pos: 1163
translation impact: non_synonymous
protein sequence:
NP_003027.1
AA pos: 388
hgvs_p: NP_003027.1:p.Ala388Val
blosum: 0
SIFT: tolerated (0.29)
PolyPhen2: benign (0.008)
dbSNP
rs75280988
GMAF = 0.001797
TOPMED_MAF = 0.00441195208970438
ClinVar
213668
clinvar_significance = Benign_Likely_benign
clinvar_disease = Shprintzen-Goldberg syndrome
clinvar_disease = Cardiovascular phenotype
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.005930,0.000454,0.004075
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
11 / 10374 |
0.106% |
| America/Latino |
38 / 11574 |
0.328% |
| East Asian |
1 / 8642 |
0.0116% |
| Finnish |
3 / 6614 |
0.0454% |
| Non-Finnish |
403 / 66502 |
0.606% |
| Other |
7 / 902 |
0.776% |
| South Asian |
3 / 16512 |
0.0182% |
| Total MAF |
466 / 121120 |
0.385% |
COSMIC
COSMIC Mutation ID = COSV66013568
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
26 / 24968 |
0.104% |
| America/Latino |
147 / 35436 |
0.415% |
| Ashkenazi Jewish |
141 / 10364 |
1.36% |
| East Asian |
2 / 19952 |
0.01% |
| Finnish |
13 / 25004 |
0.052% |
| Non-Finnish |
782 / 129082 |
0.606% |
| Other |
45 / 7220 |
0.623% |
| South Asian |
10 / 30616 |
0.0327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
2 / 14422 |
0.0139% |
| Bulgarian |
24 / 2670 |
0.899% |
| Estonian |
9 / 4826 |
0.186% |
| North-Western European |
371 / 50798 |
0.73% |
| Southern European |
88 / 11608 |
0.758% |
| Swedish |
88 / 26126 |
0.337% |
| Other non-Finnish European |
202 / 33054 |
0.611% |
| Total MAF |
1166 / 282642 |
0.413% |
curated_classification = 4
Export Variant