Classification
Category 4
curation
CMH MAF
243 /
13144 samples
(1.85%)
242 het.,
1 hom.
(99.6%)
244 /
26288 total alleles
(0.928%)
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 |
37 / 20632 |
0.179% |
| America/Latino |
150 / 30448 |
0.493% |
| Ashkenazi Jewish |
234 / 9434 |
2.48% |
| East Asian |
0 / 16754 |
0% |
| Finnish |
100 / 20664 |
0.484% |
| Non-Finnish |
1126 / 105006 |
1.07% |
| Other |
71 / 6310 |
1.13% |
| South Asian |
80 / 26822 |
0.298% |
| Korean |
0 / 3536 |
0% |
| Japanese |
0 / 62 |
0% |
| Other East Asian |
0 / 11596 |
0% |
| Bulgarian |
6 / 1636 |
0.367% |
| Estonian |
35 / 4790 |
0.731% |
| North-Western European |
503 / 47300 |
1.06% |
| Southern European |
117 / 7338 |
1.59% |
| Swedish |
168 / 17072 |
0.984% |
| Other non-Finnish European |
297 / 26870 |
1.11% |
| Total MAF |
1798 / 236070 |
0.762% |
curated_classification = 4
Export Variant