chr1:247424041:G>A Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,587,343-247,587,343 View the variant detail on this assembly version.
hg38 chr1:247,424,041-247,424,041

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.592G>A NP_001120934.1:p.Val198Met
NM_001243133.1:c.592G>A NP_001230062.1:p.Val198Met
NM_004895.4:c.592G>A NP_004886.3:p.Val198Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv5541934 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2023-08-22 criteria provided, multiple submitters, no conflicts familial cold autoinflammatory syndrome 1 germline not provided unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely benign 2018-02-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter familial cold autoinflammatory syndrome germline Detail
Uncertain significance 2020-02-13 criteria provided, single submitter Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness,familial cold autoinflammatory syndrome 1 germline maternal unknown Detail
Uncertain significance 2020-02-13 criteria provided, single submitter Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness,familial cold autoinflammatory syndrome 1 germline maternal unknown Detail
Uncertain significance 2020-02-13 criteria provided, single submitter Chronic infantile neurological, cutaneous and articular syndrome,Familial amyloid nephropathy with urticaria AND deafness,familial cold autoinflammatory syndrome 1 germline maternal unknown Detail
Likely benign 2019-04-27 criteria provided, single submitter Hearing loss, autosomal dominant 34, with or without inflammation unknown Detail
Benign 2024-01-31 criteria provided, single submitter Cryopyrin associated periodic syndrome germline Detail
Uncertain significance 2022-04-25 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2021-12-02 criteria provided, single submitter Kidney disorder germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,Hearing loss, autosomal dominant 34, with or without inflammation,familial cold autoinflammatory syndrome 1 germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,Hearing loss, autosomal dominant 34, with or without inflammation,familial cold autoinflammatory syndrome 1 germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,Hearing loss, autosomal dominant 34, with or without inflammation,familial cold autoinflammatory syndrome 1 germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,Hearing loss, autosomal dominant 34, with or without inflammation,familial cold autoinflammatory syndrome 1 germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid nephropathy with urticaria AND deafness,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,Hearing loss, autosomal dominant 34, with or without inflammation,familial cold autoinflammatory syndrome 1 germline Detail
Likely benign 2019-09-16 criteria provided, single submitter NLRP3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Familial cold urticaria NA CLINVAR Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.567 Muckle-Wells syndrome This resulted in the identification of four distinct mutations in a gene that se... UNIPROT 11687797 Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.133 Cryopyrin-Associated Periodic Syndromes The V198M mutation in the CIAS1 gene was identified in one patient with typical ... BeFree 17213252 Detail
0.567 Familial cold urticaria This resulted in the identification of four distinct mutations in a gene that se... UNIPROT 11687797 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Familial cold autoinflammatory syndrome 1 ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND not provided ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND not specified ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Familial cold autoinflammatory syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Hearing loss, autosomal dominant 34, with or withou... ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Cryopyrin associated periodic syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Autoinflammatory syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND Kidney disorder ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND multiple conditions ClinVar Detail
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) AND NLRP3-related disorder ClinVar Detail
NA DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
This resulted in the identification of four distinct mutations in a gene that segregated with the di... DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms o... DisGeNET Detail
This resulted in the identification of four distinct mutations in a gene that segregated with the di... 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
rs121908147 dbSNP
Genome
hg38
Position
chr1:247,424,041-247,424,041
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1574074074074075E-4
Chromosome Counts in All Race (ExAC)
120876
Allele Counts in All Race (ExAC)
998
Heterozygous Counts in All Race (ExAC)
988
Homozygous Counts in All Race (ExAC)
5
Allele Frequency in All Race (ExAC)
0.008256394983288659
Genome browser