1:978974-978974 G > A

Classification

Category 4 curation
CMH MAF 121 / 13144 samples (0.921%)
119 het., 2 hom. (98.3%)
123 / 26288 total alleles (0.468%)

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.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)

rs79016973
GMAF = 0.01138
TOPMED_MAF = 0.00599675076452599

263165
clinvar_significance = Benign_Likely_benign
clinvar_disease = Myasthenic syndrome

EVS
EVS MAF (European American/African American/All) = 0.004304,0.000454,0.003000

ExAC East Asian, (281 / 8404), 3.34%
COSMIC Mutation ID = COSV65069756
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Other East Asian, (530 / 14274), 3.71% curated_classification = 4