U.S. flag

An official website of the United States government

NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys) AND Familial cold autoinflammatory syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003142461.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)]

NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)

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.1493C>G (p.Ser498Cys)
HGVS:
  • NC_000001.11:g.247424942C>G
  • NG_007509.2:g.13770C>G
  • NM_001079821.3:c.1493C>G
  • NM_001127461.3:c.1493C>G
  • NM_001127462.3:c.1493C>G
  • NM_001243133.2:c.1493C>GMANE SELECT
  • NM_004895.5:c.1499C>G
  • NM_183395.3:c.1493C>G
  • NP_001073289.2:p.Ser498Cys
  • NP_001120933.2:p.Ser498Cys
  • NP_001120934.2:p.Ser498Cys
  • NP_001230062.1:p.Ser498Cys
  • NP_004886.3:p.Ser500Cys
  • NP_004886.3:p.Ser500Cys
  • NP_899632.2:p.Ser498Cys
  • LRG_197t1:c.1499C>G
  • LRG_197:g.13770C>G
  • LRG_197p1:p.Ser500Cys
  • NC_000001.10:g.247588244C>G
  • NM_004895.4:c.1499C>G
Protein change:
S498C
Molecular consequence:
  • NM_001079821.3:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003806913Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 12, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003806913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024