1:982213-982213 G > C

Classification

Category 4 curation
CMH MAF 266 / 13144 samples (2.02%)
266 het., 0 hom. (100%)
266 / 26288 total alleles (1.01%)

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.3264G>C
reference AA: L
variant AA: F
reference codon: ttG
variant codon: ttC
cDNA pos: 3314
CDS pos: 3264
translation impact: non_synonymous
protein sequence: NP_940978.2
AA pos: 1088
hgvs_p: NP_940978.2:p.Leu1088Phe
blosum: 0
SIFT: tolerated (0.57)
PolyPhen2: benign (0.0)

rs150132566
GMAF = 0.01498
TOPMED_MAF = 0.01392074413863404

128298
clinvar_significance = Benign_Likely_benign
clinvar_disease = Myasthenic syndrome

EVS
EVS MAF (European American/African American/All) = 0.007466,0.028859,0.014685

ExAC African, (189 / 4248), 4.45%
COSMIC Mutation ID = COSV65067856
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (611 / 21014), 2.91% curated_classification = 4