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NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg) AND Familial cold autoinflammatory syndrome 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000084256.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg)]

NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg)

Gene:
NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg)
HGVS:
  • NC_000001.11:g.247424442C>A
  • NG_007509.2:g.13270C>A
  • NM_001079821.3:c.993C>A
  • NM_001127461.3:c.993C>A
  • NM_001127462.3:c.993C>A
  • NM_001243133.2:c.993C>AMANE SELECT
  • NM_004895.5:c.999C>A
  • NM_183395.3:c.993C>A
  • NP_001073289.2:p.Ser331Arg
  • NP_001120933.2:p.Ser331Arg
  • NP_001120934.2:p.Ser331Arg
  • NP_001230062.1:p.Ser331Arg
  • NP_001230062.1:p.Ser331Arg
  • NP_004886.3:p.Ser333Arg
  • NP_899632.2:p.Ser331Arg
  • LRG_197:g.13270C>A
  • NC_000001.10:g.247587744C>A
  • NM_001243133.1:c.993C>A
Protein change:
S331R
Links:
dbSNP: rs180177451
NCBI 1000 Genomes Browser:
rs180177451
Molecular consequence:
  • NM_001079821.3:c.993C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.993C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.993C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.993C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.999C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.993C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cold autoinflammatory syndrome 1 (FCAS1)
Synonyms:
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; Familial cold inflammatory syndrome 1
Identifiers:
MONDO: MONDO:0007349; MedGen: C4551895; Orphanet: 47045; OMIM: 120100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116392Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Description

also involved in OMIM 191900 and 607115

SCV000116392

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.

Boschan C, Witt O, Lohse P, Foeldvari I, Zappel H, Schweigerer L.

Am J Med Genet A. 2006 Apr 15;140(8):883-6.

PubMed [citation]
PMID:
16532456

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024