1:197059382-197059382 T > C

Classification

Category 4 curation
CMH MAF 38 / 13144 samples (0.289%)
38 het., 0 hom. (100%)
38 / 26288 total alleles (0.145%)

gene: ASPM synonym(s): ASP, Calmbp1, MCPH5, ASPM, ENSG00000066279

OMIM
OMIM:605481: ASPM (Autosomal recessive inheritance)
OMIM:608716: Microcephaly 5, primary, autosomal recessive

NM_018136.4 [CDS]
hgvs_c: NM_018136.4:c.9773A>G
reference AA: H
variant AA: R
reference codon: cAt
variant codon: cGt
cDNA pos: 10030
CDS pos: 9773
translation impact: non_synonymous
protein sequence: NP_060606.3
AA pos: 3258
hgvs_p: NP_060606.3:p.His3258Arg
blosum: 0
SIFT: deleterious (0.04)
PolyPhen2: benign (0.168)

rs7528827
GMAF = 0.00639
TOPMED_MAF = 0.00681702344546381

21638
clinvar_significance = Benign_Likely_benign
clinvar_disease = Primary autosomal recessive microcephaly 5

EVS
EVS MAF (European American/African American/All) = 0.000116,0.021562,0.007381

ExAC African, (250 / 10402), 2.4%
gnomAD African, (585 / 24956), 2.34% curated_classification = 4