NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND Familial cold autoinflammatory syndrome 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 2003
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:: RCV000004629.6

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)]

NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)

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.1058T>C (p.Leu353Pro)

Other names:

p.Leu355Pro

HGVS:

NC_000001.11:g.247424507T>C
NG_007509.2:g.13335T>C
NM_001079821.3:c.1058T>C
NM_001127461.3:c.1058T>C
NM_001127462.3:c.1058T>C
NM_001243133.2:c.1058T>CMANE SELECT
NM_004895.5:c.1064T>C
NM_183395.3:c.1058T>C
NP_001073289.2:p.Leu353Pro
NP_001120933.2:p.Leu353Pro
NP_001120934.2:p.Leu353Pro
NP_001230062.1:p.Leu353Pro
NP_001230062.1:p.Leu353Pro
NP_004886.3:p.Leu355Pro
NP_004886.3:p.Leu355Pro
NP_899632.2:p.Leu353Pro
LRG_197t1:c.1064T>C
LRG_197:g.13335T>C
LRG_197p1:p.Leu355Pro
NC_000001.10:g.247587809T>C
NM_001243133.1:c.1058T>C
NM_004895.4:c.1064T>C

Protein change:

L353P; LEU353PRO

Links:

OMIM: 606416.0010; dbSNP: rs28937896

NCBI 1000 Genomes Browser:

rs28937896

Molecular consequence:

NM_001079821.3:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127461.3:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127462.3:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001243133.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004895.5:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_183395.3:c.1058T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024803	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000116303	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024803

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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

SCV000116303

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

unknown

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.

Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD.

Hum Genet. 2003 Feb;112(2):209-16. Epub 2002 Nov 16.

PubMed [citation]

PMID:: 12522564

Details of each submission

From OMIM, SCV000024803.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 4 large North American families with familial cold autoinflammatory syndrome (FCAS1; 120100), Hoffman et al. (2003) identified a heterozygous 1058T-C transition in exon 3 of the CIAS1 gene, causing a leu353-to-pro (L353P) mutation. They determined that 3 of these families shared an unusually large 40-cM haplotype.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116303.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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