Classification
Category 4
curation
CMH MAF
121 /
13144 samples
(0.921%)
119 het.,
2 hom.
(98.3%)
123 /
26288 total alleles
(0.468%)
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
263165
clinvar_significance = Benign_Likely_benign
clinvar_disease = Myasthenic syndrome
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 = COSV65069756
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
Ethnicity |
Count / Number |
MAF |
African |
18 / 24454 |
0.0736% |
America/Latino |
39 / 35278 |
0.111% |
Ashkenazi Jewish |
15 / 10114 |
0.148% |
East Asian |
649 / 19768 |
3.28% |
Finnish |
520 / 19508 |
2.67% |
Non-Finnish |
869 / 123162 |
0.706% |
Other |
72 / 7026 |
1.02% |
South Asian |
74 / 30500 |
0.243% |
Korean |
71 / 3816 |
1.86% |
Japanese |
4 / 118 |
3.39% |
Other East Asian |
530 / 14274 |
3.71% |
Bulgarian |
31 / 2618 |
1.18% |
Estonian |
105 / 4790 |
2.19% |
North-Western European |
226 / 47522 |
0.476% |
Southern European |
58 / 11274 |
0.514% |
Swedish |
256 / 25970 |
0.986% |
Other non-Finnish European |
193 / 30988 |
0.623% |
Total MAF |
2256 / 269810 |
0.836% |
curated_classification = 4
Export Variant