Classification
Category 3
non_synonymous
CMH MAF
48 /
9594 samples
(0.5%)
48 het.,
0 hom.
(100%)
48 /
19188 total alleles
(0.25%)
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
clinvar_submission_scv = SCV000281252.1
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 |
7 / 23942 |
0.0292% |
| America/Latino |
74 / 34414 |
0.215% |
| Ashkenazi Jewish |
0 / 10132 |
0% |
| East Asian |
0 / 18838 |
0% |
| Finnish |
16 / 25616 |
0.0625% |
| Non-Finnish |
431 / 126170 |
0.342% |
| Other |
5 / 6456 |
0.0774% |
| South Asian |
2 / 30770 |
0.0065% |
| Total MAF |
535 / 276338 |
0.194% |
Export Variant