1:981353-981353 C > T

Classification

Category 3 non_synonymous
CMH MAF 72 / 13144 samples (0.548%)
72 het., 0 hom. (100%)
72 / 26288 total alleles (0.274%)

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.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)

rs116836855
GMAF = 0.0009984
TOPMED_MAF = 0.00191927879714576

235570
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Myasthenic syndrome

EVS
EVS MAF (European American/African American/All) = 0.002442,0.000000,0.001615

ExAC Non-Finnish, (239 / 65692), 0.364%
gnomAD Swedish, (146 / 26060), 0.56%