Classification
Category 3
non_synonymous
CMH MAF
4 /
13144 samples
(0.0304%)
4 het.,
0 hom.
(100%)
4 /
26288 total alleles
(0.0152%)
Genes
gene: ASPM
synonym(s): ASP, Calmbp1, MCPH5, ASPM, ENSG00000066279
NM_001206846.1
[intron]
hgvs_c: NM_001206846.1:c.4066-6573G>A
protein sequence:
NP_001193775.1
NM_018136.4
[CDS]
Reportable
hgvs_c: NM_018136.4:c.6514G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 6771
CDS pos: 6514
translation impact: non_synonymous
protein sequence:
NP_060606.3
AA pos: 2172
hgvs_p: NP_060606.3:p.Val2172Ile
blosum: 3
SIFT: tolerated (0.96)
PolyPhen2: benign (0.001)
dbSNP
rs370590014
GMAF = 0.0001997
TOPMED_MAF = 0.00013538481141692
ClinVar
379093
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000681,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 10364 |
0.0675% |
| America/Latino |
0 / 11372 |
0% |
| East Asian |
0 / 8626 |
0% |
| Finnish |
0 / 6586 |
0% |
| Non-Finnish |
0 / 66530 |
0% |
| Other |
0 / 902 |
0% |
| South Asian |
0 / 16506 |
0% |
| Total MAF |
7 / 120886 |
0.00579% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
13 / 24934 |
0.0521% |
| America/Latino |
1 / 35254 |
0.00284% |
| Ashkenazi Jewish |
0 / 10334 |
0% |
| East Asian |
0 / 19916 |
0% |
| Finnish |
0 / 24996 |
0% |
| Non-Finnish |
0 / 127588 |
0% |
| Other |
0 / 7176 |
0% |
| South Asian |
0 / 30608 |
0% |
| Korean |
0 / 3800 |
0% |
| Japanese |
0 / 150 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
0 / 2664 |
0% |
| Estonian |
0 / 4826 |
0% |
| North-Western European |
0 / 49988 |
0% |
| Southern European |
0 / 11482 |
0% |
| Swedish |
0 / 26080 |
0% |
| Other non-Finnish European |
0 / 32548 |
0% |
| Total MAF |
14 / 280806 |
0.00499% |
Export Variant