Classification
Category 4
non_synonymous
CMH MAF
191 /
9594 samples
(1.99%)
191 het.,
0 hom.
(100%)
191 /
19188 total alleles
(0.995%)
Genes
gene: AGRN
synonym(s): AGRN, ENSG00000188157
NM_198576.3
[CDS]
Reportable
hgvs_c: NM_198576.3:c.4540G>A
reference AA: A
variant AA: T
reference codon: Gcc
variant codon: Acc
cDNA pos: 4590
CDS pos: 4540
translation impact: non_synonymous
protein sequence:
NP_940978.2
AA pos: 1514
hgvs_p: NP_940978.2:p.Ala1514Thr
blosum: 0
SIFT: tolerated (1.0)
PolyPhen2: benign (0.013)
dbSNP
rs111818381
GMAF = 0.004393
TOPMED_MAF = 0.00790806574923547
ClinVar
128309
clinvar_significance = Benign_Likely_benign
clinvar_disease = Myasthenic syndrome
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.010999,0.001839,0.007909
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
14 / 4062 |
0.345% |
| America/Latino |
38 / 2380 |
1.6% |
| East Asian |
0 / 2990 |
0% |
| Finnish |
14 / 866 |
1.62% |
| Non-Finnish |
470 / 24648 |
1.91% |
| Other |
6 / 344 |
1.74% |
| South Asian |
33 / 9938 |
0.332% |
| Total MAF |
575 / 45228 |
1.27% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
41 / 19962 |
0.205% |
| America/Latino |
150 / 29682 |
0.505% |
| Ashkenazi Jewish |
233 / 9254 |
2.52% |
| East Asian |
0 / 16000 |
0% |
| Finnish |
101 / 20852 |
0.484% |
| Non-Finnish |
1092 / 102570 |
1.06% |
| Other |
54 / 5630 |
0.959% |
| South Asian |
80 / 26972 |
0.297% |
| Total MAF |
1751 / 230922 |
0.758% |
Export Variant