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