Classification
Category 4
CMH MAF
113 /
9594 samples
(1.18%)
113 het.,
0 hom.
(100%)
113 /
19188 total alleles
(0.589%)
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_submission_scv = SCV000511006.1
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 = COSM4028580
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
25 / 24036 |
0.104% |
| America/Latino |
143 / 34420 |
0.415% |
| Ashkenazi Jewish |
141 / 10150 |
1.39% |
| East Asian |
2 / 18868 |
0.0106% |
| Finnish |
16 / 25674 |
0.0623% |
| Non-Finnish |
748 / 126670 |
0.591% |
| Other |
33 / 6466 |
0.51% |
| South Asian |
10 / 30782 |
0.0325% |
| Total MAF |
1118 / 277066 |
0.404% |
Export Variant