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%)

gene: AGRN synonym(s): AGRN, ENSG00000188157

OMIM
OMIM:103320: AGRN (Autosomal recessive inheritance)
OMIM:615120: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects

NM_198576.3 [CDS]
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)

rs111818381
GMAF = 0.004393
TOPMED_MAF = 0.00790806574923547

128309
clinvar_significance = Benign_Likely_benign
clinvar_disease = Myasthenic syndrome

EVS
EVS MAF (European American/African American/All) = 0.010999,0.001839,0.007909

ExAC Non-Finnish, (470 / 24648), 1.91%
gnomAD Ashkenazi Jewish, (234 / 9434), 2.48% curated_classification = 4