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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

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Assertion and evidence details

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]

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