Classification
Category 4
Common ExAC MAF
original cat: TYPE_3 - non_synonymous
CMH MAF
93 /
9594 samples
(0.969%)
93 het.,
0 hom.
(100%)
93 /
19188 total alleles
(0.485%)
Genes
gene: AGRN
synonym(s): AGRN, ENSG00000188157
NM_198576.3
[CDS]
Reportable
hgvs_c: NM_198576.3:c.1660G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 1710
CDS pos: 1660
translation impact: non_synonymous
protein sequence:
NP_940978.2
AA pos: 554
hgvs_p: NP_940978.2:p.Val554Met
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.867)
dbSNP
rs79016973
GMAF = 0.01138
TOPMED_MAF = 0.00599675076452599
ClinVar
clinvar_disease = Myasthenic syndrome
263165
clinvar_significance = Benign_Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.004304,0.000454,0.003000
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 9628 |
0.0727% |
| America/Latino |
9 / 11350 |
0.0793% |
| East Asian |
281 / 8404 |
3.34% |
| Finnish |
193 / 6514 |
2.96% |
| Non-Finnish |
491 / 63930 |
0.768% |
| Other |
17 / 860 |
1.98% |
| South Asian |
36 / 16348 |
0.22% |
| Total MAF |
1034 / 117034 |
0.884% |
COSMIC
COSMIC Mutation ID = COSM1317499
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
18 / 23564 |
0.0764% |
| America/Latino |
39 / 34286 |
0.114% |
| Ashkenazi Jewish |
16 / 9954 |
0.161% |
| East Asian |
605 / 18734 |
3.23% |
| Finnish |
555 / 20272 |
2.74% |
| Non-Finnish |
851 / 121152 |
0.702% |
| Other |
67 / 6284 |
1.07% |
| South Asian |
72 / 30686 |
0.235% |
| Total MAF |
2223 / 264932 |
0.839% |
Export Variant