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%)

Genes

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

NM_000815.4 [CDS] Reportable
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)

dbSNP

rs79386457
TOPMED_MAF = 0.00046986493374108

ClinVar

460006
clinvar_significance = Likely_benign
clinvar_disease = Idiopathic generalized epilepsy

Exome Variant Server

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

ExAC

ExAC
Ethnicity Count / Number MAF
African 3 / 9384 0.032%
America/Latino 8 / 11434 0.07%
East Asian 1 / 8508 0.0118%
Finnish 0 / 6604 0%
Non-Finnish 51 / 62732 0.0813%
Other 3 / 826 0.363%
South Asian 9 / 14036 0.0641%
Total MAF 75 / 113524 0.0661%

COSMIC

COSMIC Mutation ID = COSV66080693
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 3 / 24162 0.0124%
America/Latino 32 / 34506 0.0927%
Ashkenazi Jewish 24 / 9932 0.242%
East Asian 1 / 19726 0.00507%
Finnish 0 / 24868 0%
Non-Finnish 85 / 124892 0.0681%
Other 7 / 7006 0.0999%
South Asian 19 / 29910 0.0635%
Korean 1 / 3816 0.0262%
Japanese 0 / 122 0%
Other East Asian 0 / 14228 0%
Bulgarian 9 / 2606 0.345%
Estonian 1 / 4806 0.0208%
North-Western European 20 / 48912 0.0409%
Southern European 27 / 11334 0.238%
Swedish 1 / 25906 0.00386%
Other non-Finnish European 27 / 31328 0.0862%
Total MAF 171 / 275002 0.0622%

curated_classification = 4

Export Variant

Curation

Likely Benign