Classification
Category 3
non_synonymous
CMH MAF
72 /
13144 samples
(0.548%)
72 het.,
0 hom.
(100%)
72 /
26288 total alleles
(0.274%)
Genes
gene: AGRN
synonym(s): AGRN, ENSG00000188157
NM_198576.3
[CDS]
Reportable
hgvs_c: NM_198576.3:c.2690C>T
reference AA: A
variant AA: V
reference codon: gCg
variant codon: gTg
cDNA pos: 2740
CDS pos: 2690
translation impact: non_synonymous
protein sequence:
NP_940978.2
AA pos: 897
hgvs_p: NP_940978.2:p.Ala897Val
blosum: 0
SIFT: tolerated (0.14)
PolyPhen2: possibly_damaging (0.798)
dbSNP
rs116836855
GMAF = 0.0009984
TOPMED_MAF = 0.00191927879714576
ClinVar
235570
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Myasthenic syndrome
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.002442,0.000000,0.001615
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 10206 |
0.0196% |
| America/Latino |
8 / 11514 |
0.0695% |
| East Asian |
0 / 8586 |
0% |
| Finnish |
1 / 6530 |
0.0153% |
| Non-Finnish |
239 / 65692 |
0.364% |
| Other |
0 / 892 |
0% |
| South Asian |
1 / 16480 |
0.00607% |
| Total MAF |
251 / 119900 |
0.209% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 24850 |
0.0241% |
| America/Latino |
74 / 35406 |
0.209% |
| Ashkenazi Jewish |
0 / 10306 |
0% |
| East Asian |
0 / 19916 |
0% |
| Finnish |
14 / 24932 |
0.0562% |
| Non-Finnish |
441 / 128238 |
0.344% |
| Other |
6 / 7202 |
0.0833% |
| South Asian |
2 / 30596 |
0.00654% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
0 / 14408 |
0% |
| Bulgarian |
0 / 2660 |
0% |
| Estonian |
9 / 4816 |
0.187% |
| North-Western European |
167 / 50488 |
0.331% |
| Southern European |
15 / 11546 |
0.13% |
| Swedish |
146 / 26060 |
0.56% |
| Other non-Finnish European |
104 / 32668 |
0.318% |
| Total MAF |
543 / 281446 |
0.193% |
Export Variant