Classification
Category 4
non_synonymous
CMH MAF
13 /
9594 samples
(0.136%)
13 het.,
0 hom.
(100%)
13 /
19188 total alleles
(0.0678%)
Genes
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 = COSM3863947
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 23612 |
0.0127% |
| America/Latino |
29 / 33578 |
0.0864% |
| Ashkenazi Jewish |
24 / 9784 |
0.245% |
| East Asian |
1 / 18676 |
0.00535% |
| Finnish |
0 / 25538 |
0% |
| Non-Finnish |
83 / 123256 |
0.0673% |
| Other |
12 / 6296 |
0.191% |
| South Asian |
19 / 30094 |
0.0631% |
| Total MAF |
171 / 270834 |
0.0631% |
Export Variant