1:1961512-1961512 C > T

Classification

Category 4 curation
CMH MAF 13 / 13144 samples (0.0989%)
13 het., 0 hom. (100%)
13 / 26288 total alleles (0.0495%)

gene: GABRD synonym(s): EIG10, EJM7, GEFSP5, GABRD, ENSG00000187730

OMIM
OMIM:137163: GABRD
OMIM:613060: {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}
OMIM:613060: {Epilepsy, idiopathic generalized, 10}
OMIM:613060: {Epilepsy, juvenile myoclonic, susceptibility to}

NM_000815.4 [CDS]
hgvs_c: NM_000815.4:c.1150C>T
reference AA: P
variant AA: S
reference codon: Ccg
variant codon: Tcg
cDNA pos: 1245
CDS pos: 1150
translation impact: non_synonymous
protein sequence: NP_000806.2
AA pos: 384
hgvs_p: NP_000806.2:p.Pro384Ser
blosum: -1
SIFT: tolerated (0.17)
PolyPhen2: benign (0.011)

rs79386457
TOPMED_MAF = 0.00046986493374108

460006
clinvar_significance = Likely_benign
clinvar_disease = Idiopathic generalized epilepsy

EVS
EVS MAF (European American/African American/All) = 0.000698,0.000227,0.000539

ExAC Non-Finnish, (51 / 62732), 0.0813%
COSMIC Mutation ID = COSV66080693
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Bulgarian, (9 / 2606), 0.345% curated_classification = 4