Classification
Category 4
curation
CMH MAF
205 /
13144 samples
(1.56%)
205 het.,
0 hom.
(100%)
205 /
26288 total alleles
(0.78%)
Genes
gene: NLRP3
synonym(s): AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCU, MWS, NALP3, PYPAF1, NLRP3, ENSG00000162711
ENST00000336119.3
[CDS]
Reportable
hgvs_c: ENST00000336119.3:c.598G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 1344
CDS pos: 598
translation impact: non_synonymous
protein sequence:
ENSP00000337383.3
AA pos: 200
hgvs_p: ENSP00000337383.3:p.Val200Met
blosum: 1
SIFT: tolerated (0.37)
PolyPhen2: benign (0.004)
ENST00000348069.2
[CDS]
hgvs_c: ENST00000348069.2:c.598G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 1344
CDS pos: 598
translation impact: non_synonymous
protein sequence:
ENSP00000294752.3
AA pos: 200
hgvs_p: ENSP00000294752.3:p.Val200Met
blosum: 1
SIFT: tolerated (0.36)
PolyPhen2: benign (0.001)
ENST00000366497.2
[CDS]
hgvs_c: ENST00000366497.2:c.598G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 1378
CDS pos: 598
translation impact: non_synonymous
protein sequence:
ENSP00000355453.2
AA pos: 200
hgvs_p: ENSP00000355453.2:p.Val200Met
blosum: 1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.016)
ENST00000391827.2
[CDS]
hgvs_c: ENST00000391827.2:c.598G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 598
CDS pos: 598
translation impact: non_synonymous
protein sequence:
ENSP00000375703.2
AA pos: 200
hgvs_p: ENSP00000375703.2:p.Val200Met
blosum: 1
SIFT: tolerated (0.35)
PolyPhen2: benign (0.01)
ENST00000391828.3
[CDS]
hgvs_c: ENST00000391828.3:c.598G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 736
CDS pos: 598
translation impact: non_synonymous
protein sequence:
ENSP00000375704.3
AA pos: 200
hgvs_p: ENSP00000375704.3:p.Val200Met
blosum: 1
SIFT: tolerated (0.37)
PolyPhen2: benign (0.004)
dbSNP
rs121908147
GMAF = 0.003994
TOPMED_MAF = 0.00581358307849133
ClinVar
4371
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Familial amyloid nephropathy with urticaria AND deafness
clinvar_disease = Familial cold autoinflammatory syndrome
clinvar_disease = Chronic infantile neurological
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.009535,0.001589,0.006843
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
13 / 10324 |
0.126% |
| America/Latino |
44 / 11492 |
0.383% |
| East Asian |
1 / 8640 |
0.0116% |
| Finnish |
165 / 6518 |
2.53% |
| Non-Finnish |
662 / 66556 |
0.995% |
| Other |
14 / 896 |
1.56% |
| South Asian |
99 / 16450 |
0.602% |
| Total MAF |
998 / 120876 |
0.826% |
COSMIC
COSMIC Mutation ID = COSV60225809
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
32 / 24946 |
0.128% |
| America/Latino |
149 / 35410 |
0.421% |
| Ashkenazi Jewish |
134 / 10358 |
1.29% |
| East Asian |
1 / 19942 |
0.00501% |
| Finnish |
588 / 25096 |
2.34% |
| Non-Finnish |
1194 / 128992 |
0.926% |
| Other |
65 / 7214 |
0.901% |
| South Asian |
188 / 30608 |
0.614% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
1 / 14422 |
0.00693% |
| Bulgarian |
16 / 2668 |
0.6% |
| Estonian |
60 / 4820 |
1.24% |
| North-Western European |
445 / 50738 |
0.877% |
| Southern European |
132 / 11600 |
1.14% |
| Swedish |
267 / 26118 |
1.02% |
| Other non-Finnish European |
274 / 33048 |
0.829% |
| Total MAF |
2351 / 282566 |
0.832% |
curated_classification = 4
Export Variant