Classification
Category 3
curation
CMH MAF
57 /
11951 samples
(0.477%)
57 het.,
0 hom.
(100%)
57 /
23902 total alleles
(0.238%)
Genes
gene: PSMB4
synonym(s): HN3, HsN3, PROS-26, PROS26, PSMB4, ENSG00000159377
NM_002796.2
[5_utr]
Reportable
hgvs_c: NM_002796.2:c.-9G>A
cDNA pos: 15
protein sequence:
NP_002787.2
dbSNP
rs200946642
TOPMED_MAF = 0.00159276248725790
ClinVar
548956
clinvar_significance = Pathogenic
clinvar_disease = PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001281,0.000454,0.001000
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
4 / 9368 |
0.0427% |
| America/Latino |
5 / 11558 |
0.0433% |
| East Asian |
0 / 8636 |
0% |
| Finnish |
1 / 6614 |
0.0151% |
| Non-Finnish |
97 / 64660 |
0.15% |
| Other |
0 / 896 |
0% |
| South Asian |
0 / 16458 |
0% |
| Total MAF |
107 / 118190 |
0.0905% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
10 / 24080 |
0.0415% |
| America/Latino |
33 / 30942 |
0.107% |
| Ashkenazi Jewish |
0 / 9550 |
0% |
| East Asian |
0 / 18680 |
0% |
| Finnish |
3 / 24814 |
0.0121% |
| Non-Finnish |
217 / 124490 |
0.174% |
| Other |
7 / 6790 |
0.103% |
| South Asian |
1 / 29070 |
0.00344% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 13150 |
0% |
| Bulgarian |
0 / 2610 |
0% |
| Estonian |
0 / 4804 |
0% |
| North-Western European |
128 / 48778 |
0.262% |
| Southern European |
15 / 11378 |
0.132% |
| Swedish |
29 / 25584 |
0.113% |
| Other non-Finnish European |
45 / 31336 |
0.144% |
| Total MAF |
271 / 268416 |
0.101% |
curated_classification = 3
Export Variant