1:197070594-197070594 A > G

Classification

Category 4 curation
CMH MAF 99 / 13144 samples (0.753%)
99 het., 0 hom. (100%)
99 / 26288 total alleles (0.377%)

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.7787T>C
reference AA: V
variant AA: A
reference codon: gTa
variant codon: gCa
cDNA pos: 8044
CDS pos: 7787
translation impact: non_synonymous
protein sequence: NP_060606.3
AA pos: 2596
hgvs_p: NP_060606.3:p.Val2596Ala
blosum: 0
SIFT: tolerated (0.66)
PolyPhen2: benign (0.0)

rs79572771
GMAF = 0.01498
TOPMED_MAF = 0.01461359582059123

157878
clinvar_significance = Benign_Likely_benign
clinvar_disease = Primary Microcephaly

EVS
EVS MAF (European American/African American/All) = 0.000116,0.044258,0.015070

ExAC African, (491 / 10220), 4.8%
gnomAD African, (1182 / 24840), 4.76% curated_classification = 4