1:2234791-2234791 C > T

Classification

Category 4

curation

CMH MAF

159 / 13144 samples (1.21%)
159 het., 0 hom. (100%)
159 / 26288 total alleles (0.605%)

Genes

Consequences
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

Curation

Likely Benign