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NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys) 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:
RCV000084213.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys)]

NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys)

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.1976T>A (p.Met659Lys)
HGVS:
  • NC_000001.11:g.247425425T>A
  • NG_007509.2:g.14253T>A
  • NM_001079821.3:c.1976T>A
  • NM_001127461.3:c.1976T>A
  • NM_001127462.3:c.1976T>A
  • NM_001243133.2:c.1976T>AMANE SELECT
  • NM_004895.5:c.1982T>A
  • NM_183395.3:c.1976T>A
  • NP_001073289.2:p.Met659Lys
  • NP_001120933.2:p.Met659Lys
  • NP_001120934.2:p.Met659Lys
  • NP_001230062.1:p.Met659Lys
  • NP_001230062.1:p.Met659Lys
  • NP_004886.3:p.Met661Lys
  • NP_899632.2:p.Met659Lys
  • LRG_197:g.14253T>A
  • NC_000001.10:g.247588727T>A
  • NM_001243133.1:c.1976T>A
Protein change:
M659K
Links:
dbSNP: rs180177457
NCBI 1000 Genomes Browser:
rs180177457
Molecular consequence:
  • NM_001079821.3:c.1976T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1976T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1976T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1976T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1982T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1976T>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
SCV000116347Unité 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

SCV000116347

Help

Summary from all submissions

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

Citations

PubMed

IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients.

Stack JH, Beaumont K, Larsen PD, Straley KS, Henkel GW, Randle JC, Hoffman HM.

J Immunol. 2005 Aug 15;175(4):2630-4.

PubMed [citation]
PMID:
16081838

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116347.1

#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