NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Dec 3, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000768276.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)]

NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)

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.1639A>T (p.Ser547Cys)
HGVS:
  • NC_000001.11:g.247425088A>T
  • NG_007509.2:g.13916A>T
  • NM_001079821.2:c.1645A>T
  • NM_001079821.3:c.1639A>T
  • NM_001127461.3:c.1639A>T
  • NM_001127462.3:c.1639A>T
  • NM_001243133.2:c.1639A>TMANE SELECT
  • NM_004895.4:c.1645A>T
  • NM_004895.5:c.1645A>T
  • NM_183395.3:c.1639A>T
  • NP_001073289.1:p.Ser549Cys
  • NP_001073289.2:p.Ser547Cys
  • NP_001120933.2:p.Ser547Cys
  • NP_001120934.2:p.Ser547Cys
  • NP_001230062.1:p.Ser547Cys
  • NP_004886.3:p.Ser549Cys
  • NP_004886.3:p.Ser549Cys
  • NP_899632.2:p.Ser547Cys
  • LRG_197t1:c.1645A>T
  • LRG_197:g.13916A>T
  • LRG_197p1:p.Ser549Cys
  • NC_000001.10:g.247588390A>T
  • p.Ser549Cys
Protein change:
S547C
Links:
dbSNP: rs139833874
NCBI 1000 Genomes Browser:
rs139833874
Molecular consequence:
  • NM_001079821.2:c.1645A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079821.3:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.4:c.1645A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1645A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1639A>T - 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
Name:
Familial amyloid nephropathy with urticaria AND deafness (MWS)
Synonyms:
Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008633; MedGen: C0268390; Orphanet: 575; OMIM: 191900
Name:
Familial cold autoinflammatory syndrome 1 (FCAS1)
Synonyms:
CRYOPYRIN-ASSOCIATED PERIODIC 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
SCV000898854Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(Dec 3, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898854.1

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

Description

NLRP3 NM_004895.4 exon 4 p.Ser549Cys (c.1645A>T): This variant has not been reported in the literature and is present in 0.3% (81/24950) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/1-247588390-A-T). This variant is present in ClinVar (Variation ID:536887). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Nov 6, 2021

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