Classification
Category 3
frameshift
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: AKT3
synonym(s): MPPH, PKB-GAMMA, PKBG, PRKBG, RAC-gamma, RAC-PK-gamma, STK-2, AKT3, ENSG00000117020
NM_001206729.1
[CDS]
hgvs_c: NM_001206729.1:c.1395dupA
variant AA: X
variant codon: A
cDNA pos: 1548
CDS pos: 1395
translation impact: frameshift
protein sequence:
NP_001193658.1
AA pos: 465
hgvs_p: NP_001193658.1:p.Ter466IlefsTer8
NM_005465.4
[3_utr]
Reportable
hgvs_c: NM_005465.4:c.*5503dupA
cDNA pos: 7055
protein sequence:
NP_005456.1
NM_181690.2
[CDS]
hgvs_c: NM_181690.2:c.1395dupA
variant AA: X
variant codon: A
cDNA pos: 1507
CDS pos: 1395
translation impact: frameshift
protein sequence:
NP_859029.1
AA pos: 465
hgvs_p: NP_859029.1:p.Ter466IlefsTer22
gene: SDCCAG8
synonym(s): BBS16, CCCAP, SDCCAG8, ENSG00000054282
NM_006642.3
[intron]
Reportable
hgvs_c: NM_006642.3:c.2113-5dupT
splice impact: polypyrimidine_tract
protein sequence:
NP_006633.1
dbSNP
rs749233183
gnomAD
gnomAD
Source: Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 16200 |
0.00617% |
| America/Latino |
0 / 34550 |
0% |
| Ashkenazi Jewish |
0 / 10074 |
0% |
| East Asian |
0 / 18382 |
0% |
| Finnish |
0 / 21396 |
0% |
| Non-Finnish |
0 / 113576 |
0% |
| Other |
0 / 6130 |
0% |
| South Asian |
1 / 30580 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 148 |
0% |
| Other East Asian |
0 / 14416 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 242 |
0% |
| North-Western European |
0 / 42178 |
0% |
| Southern European |
0 / 11490 |
0% |
| Swedish |
0 / 26048 |
0% |
| Other non-Finnish European |
0 / 30950 |
0% |
| Total MAF |
2 / 250888 |
0.000797% |
Export Variant