Classification
Category 4
curation
CMH MAF
241 /
11962 samples
(2.01%)
237 het.,
4 hom.
(98.3%)
245 /
23924 total alleles
(1.02%)
Genes
gene: NLRP3
synonym(s): AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, MWS, NALP3, PYPAF1, NLRP3, ENSG00000162711
ENST00000336119.3
[intron]
Reportable
hgvs_c: ENST00000336119.3:c.284-45T>C
protein sequence:
ENSP00000337383.3
ENST00000348069.2
[intron]
hgvs_c: ENST00000348069.2:c.284-45T>C
protein sequence:
ENSP00000294752.3
ENST00000366497.2
[intron]
hgvs_c: ENST00000366497.2:c.284-45T>C
protein sequence:
ENSP00000355453.2
ENST00000391827.2
[intron]
hgvs_c: ENST00000391827.2:c.284-45T>C
protein sequence:
ENSP00000375703.2
ENST00000391828.3
[intron]
hgvs_c: ENST00000391828.3:c.284-45T>C
protein sequence:
ENSP00000375704.3
dbSNP
rs41303141
GMAF = 0.003994
TOPMED_MAF = 0.00716743119266055
ClinVar
618761
clinvar_significance = Benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.009302,0.001589,0.006689
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
19 / 10406 |
0.183% |
| America/Latino |
61 / 11578 |
0.527% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
9 / 6614 |
0.136% |
| Non-Finnish |
644 / 66738 |
0.965% |
| Other |
9 / 908 |
0.991% |
| South Asian |
12 / 16512 |
0.0727% |
| Total MAF |
754 / 121410 |
0.621% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
50 / 24966 |
0.2% |
| America/Latino |
216 / 35440 |
0.609% |
| Ashkenazi Jewish |
155 / 10370 |
1.49% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
24 / 25100 |
0.0956% |
| Non-Finnish |
1243 / 129154 |
0.962% |
| Other |
51 / 7224 |
0.706% |
| South Asian |
20 / 30616 |
0.0653% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
37 / 2670 |
1.39% |
| Estonian |
16 / 4834 |
0.331% |
| North-Western European |
561 / 50782 |
1.1% |
| Southern European |
155 / 11610 |
1.34% |
| Swedish |
175 / 26134 |
0.67% |
| Other non-Finnish European |
299 / 33124 |
0.903% |
| Total MAF |
1759 / 282824 |
0.622% |
curated_classification = 4
Export Variant