11:116728913-116728913 G > A

Classification

Category 5
CMH MAF 247 / 13148 samples (1.88%)
243 het., 4 hom. (98.4%)
251 / 26296 total alleles (0.955%)

gene: SIK3 synonym(s): L19, QSK, SIK-3, SIK3, ENSG00000160584

OMIM
OMIM:614776: SIK3
OMIM:618162: ?Spondyloepimetaphyseal dysplasia, Krakow type

NM_025164.3 [CDS]
hgvs_c: NM_025164.3:c.2950C>T
reference AA: R
variant AA: C
reference codon: Cgc
variant codon: Tgc
cDNA pos: 2986
CDS pos: 2950
translation impact: non_synonymous
protein sequence: NP_079440.2
AA pos: 984
hgvs_p: NP_079440.2:p.Arg984Cys
blosum: -3
SIFT: tolerated_low_confidence (0.08)
PolyPhen2: benign (0.003)

rs61738656
GMAF = 0.02576
TOPMED_MAF = 0.02763442915392456

EVS
EVS MAF (European American/African American/All) = 0.000466,0.089050,0.030476

ExAC African, (882 / 10404), 8.48%
COSMIC Mutation ID = COSV52615247
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (2277 / 24950), 9.13%