1:2234824-2234824 C > T

Classification

Category 4

curation

CMH MAF

9 / 13144 samples (0.0685%)
9 het., 0 hom. (100%)
9 / 26288 total alleles (0.0342%)

Genes

Consequences
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

Curation

Likely Benign