chr1:247425556:C>A Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,588,858-247,588,858 View the variant detail on this assembly version.
hg38 chr1:247,425,556-247,425,556

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.2107C>A NP_001120934.1:p.Gln703Lys
NM_001243133.1:c.2107C>A NP_001230062.1:p.Gln703Lys
NM_004895.4:c.2107C>A NP_004886.3:p.Gln703Lys
Summary

MGeND

Clinical significance Benign Uncertain significance
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.003
ToMMo:0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606416 OMIM
HGNC 16400 HGNC
Ensembl ENSG00000162711 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5542272 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
Uncertain significance other somatic MGS000001
(TMGS000183) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-01-22 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2017-04-27 criteria provided, single submitter familial cold autoinflammatory syndrome 1 germline Detail
Benign 2017-04-27 criteria provided, single submitter Chronic infantile neurological, cutaneous and articular syndrome germline Detail
Benign 2017-04-27 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness germline Detail
Conflicting interpretations of pathogenicity 2023-11-17 criteria provided, conflicting interpretations not provided germline Detail
Benign 2024-02-01 criteria provided, single submitter Cryopyrin associated periodic syndrome germline Detail
Benign 2022-02-10 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Benign 2022-09-02 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.009 rheumatoid arthritis The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently ... BeFree 19319132 Detail
0.141 Crohn Disease Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's dise... BeFree 20182451 Detail
<0.001 Dyslipidemias Interaction between rs2043211 and rs35829419 was observed in this dataset (χ(2)=... BeFree 21621776 Detail
0.560 Crohn Disease We found that the presence of the minor allele of rs2043211 with the major allel... BeFree 20182451 Detail
0.009 Crohn Disease Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's dise... BeFree 20182451 Detail
0.010 rheumatoid arthritis Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid... BeFree 22128899 Detail
0.009 rheumatoid arthritis Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid... BeFree 22128899 Detail
0.010 rheumatoid arthritis The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently ... BeFree 19319132 Detail
<0.001 Lung diseases Our results support the hypothesis that the NLRP3 inflammasome is important in t... BeFree 24142982 Detail
<0.001 Interstitial fibrosis Our results support the hypothesis that the NLRP3 inflammasome is important in t... BeFree 24142982 Detail
0.001 Interstitial fibrosis A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated w... BeFree 24142982 Detail
0.001 Periodic fever To analyse the long-term clinical course in a cohort of patients presenting with... BeFree 22935299 Detail
0.141 Crohn Disease [Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn\'s di... GAD 20182451 Detail
0.010 rheumatoid arthritis CARD8 p.C10X and NLRP3 p.Q705K genotypes were assessed in &gt;500 controls and p... BeFree 19443463 Detail
0.003 celiac disease The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype ar... BeFree 21245836 Detail
0.003 celiac disease The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype ar... BeFree 21245836 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND not specified ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Familial cold autoinflammatory syndrome 1 ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Chronic infantile neurological, cutaneous and arti... ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Familial amyloid nephropathy with urticaria AND de... ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND not provided ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Cryopyrin associated periodic syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Autoinflammatory syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) AND Focal segmental glomerulosclerosis ClinVar Detail
The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently shown to be associat... DisGeNET Detail
Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. DisGeNET Detail
Interaction between rs2043211 and rs35829419 was observed in this dataset (χ(2)=6.22; p=0.044), whic... DisGeNET Detail
We found that the presence of the minor allele of rs2043211 with the major allele of rs35829419 conf... DisGeNET Detail
Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. DisGeNET Detail
Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French... DisGeNET Detail
Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French... DisGeNET Detail
The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently shown to be associat... DisGeNET Detail
Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fi... DisGeNET Detail
Our results support the hypothesis that the NLRP3 inflammasome is important in the development of fi... DisGeNET Detail
A functional polymorphism (Q705K; rs35829419) in the NLRP3 gene was associated with interstitial lun... DisGeNET Detail
To analyse the long-term clinical course in a cohort of patients presenting with periodic fever atta... DisGeNET Detail
[Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn\'s disease.] DisGeNET Detail
CARD8 p.C10X and NLRP3 p.Q705K genotypes were assessed in &gt;500 controls and patients with early R... DisGeNET Detail
The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with ce... DisGeNET Detail
The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with ce... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs35829419 dbSNP
Genome
hg38
Position
chr1:247,425,556-247,425,556
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
46.98
Standard deviation of sample read depth (HGVD)
22.23
Number of reference allele (HGVD)
2402
Number of alternative allele (HGVD)
8
Allele Frequency (HGVD)
0.0033195020746887966
Gene Symbol (HGVD)
NLRP3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs35829419
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
21
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8596
East Asian Allele Counts (ExAC)
20
East Asian Heterozygous Counts (ExAC)
20
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002326663564448581
Chromosome Counts in All Race (ExAC)
121038
Allele Counts in All Race (ExAC)
4956
Heterozygous Counts in All Race (ExAC)
4676
Homozygous Counts in All Race (ExAC)
140
Allele Frequency in All Race (ExAC)
0.04094581866851733
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