1:984971-984971 G > A

Classification

Category 4

curation

CMH MAF

243 / 13144 samples (1.85%)
242 het., 1 hom. (99.6%)
244 / 26288 total alleles (0.928%)

Genes

Consequences
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

Curation

Likely Benign