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NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser) AND Chronic infantile neurological, cutaneous and articular syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000004628.3

Allele description [Variation Report for NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)]

NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)

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.926T>C (p.Phe309Ser)
HGVS:
  • NC_000001.11:g.247424375T>C
  • NG_007509.2:g.13203T>C
  • NM_001079821.3:c.926T>C
  • NM_001127461.3:c.926T>C
  • NM_001127462.3:c.926T>C
  • NM_001243133.2:c.926T>CMANE SELECT
  • NM_004895.5:c.932T>C
  • NM_183395.3:c.926T>C
  • NP_001073289.2:p.Phe309Ser
  • NP_001120933.2:p.Phe309Ser
  • NP_001120934.2:p.Phe309Ser
  • NP_001230062.1:p.Phe309Ser
  • NP_001230062.1:p.Phe309Ser
  • NP_004886.3:p.Phe311Ser
  • NP_899632.2:p.Phe309Ser
  • LRG_197:g.13203T>C
  • NC_000001.10:g.247587677T>C
  • NM_001243133.1:c.926T>C
Protein change:
F309S; PHE309SER
Links:
OMIM: 606416.0009; dbSNP: rs121908154
NCBI 1000 Genomes Browser:
rs121908154
Molecular consequence:
  • NM_001079821.3:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.926T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chronic infantile neurological, cutaneous and articular syndrome (CINCA)
Synonyms:
CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME; Chronic Infantile Neurological Cutaneous Articular syndrome; Infantile Onset Multisystem Inflammatory Disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011776; MedGen: C0409818; Orphanet: 1451; OMIM: 607115

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024802OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2002) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G.

Am J Hum Genet. 2002 Jul;71(1):198-203. Epub 2002 May 24.

PubMed [citation]
PMID:
12032915
PMCID:
PMC384980

Details of each submission

From OMIM, SCV000024802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with CINCA syndrome (CINCA; 607115), Feldmann et al. (2002) identified a T-to-C transition at nucleotide 926 in the CIAS1 gene, leading to a phe309-to-ser (F309S) substitution. The features of the disorder in this patient were neonatal onset, skin lesions, chronic meningitis, joint inflammation, radiologically severe arthropathy, sensory organ impairment, and dysmorphism. Radiologic changes at the age of 2.5 years included bilateral severe bony deformities of the knees, resulting in hard bony enlargement without any suggestion of synovial thickening on palpation. Growth cartilage 'burst' and irregular opacification of the patella were illustrated.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024