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%)

gene: SKI synonym(s): SGS, SKV, SKI, ENSG00000157933

OMIM
OMIM:164780: SKI (Autosomal dominant inheritance,Sporadic)
OMIM:182212: Shprintzen-Goldberg syndrome

NM_003036.3 [CDS]
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)

rs75280988
GMAF = 0.001797
TOPMED_MAF = 0.00441195208970438

213668
clinvar_significance = Benign_Likely_benign
clinvar_disease = Shprintzen-Goldberg syndrome
clinvar_disease = Cardiovascular phenotype

EVS
EVS MAF (European American/African American/All) = 0.005930,0.000454,0.004075

ExAC Non-Finnish, (403 / 66502), 0.606%
COSMIC Mutation ID = COSV66013568
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Ashkenazi Jewish, (141 / 10364), 1.36% curated_classification = 4