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NM_004895.5(NLRP3):c.2113C>A (p.Gln705Lys) AND Chronic infantile neurological, cutaneous and articular syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000340224.1

Allele description

NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)

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.2107C>A (p.Gln703Lys)
HGVS:
  • NC_000001.11:g.247425556C>A
  • NG_007509.2:g.14384C>A
  • NM_001079821.2:c.2113C>A
  • NM_001079821.3:c.2107C>A
  • NM_001127461.3:c.2107C>A
  • NM_001127462.3:c.2107C>A
  • NM_001243133.2:c.2107C>A
  • NM_004895.4:c.2113C>A
  • NM_004895.5:c.2113C>A
  • NM_183395.3:c.2107C>A
  • NP_001073289.1:p.Gln705Lys
  • NP_001073289.2:p.Gln703Lys
  • NP_001120933.2:p.Gln703Lys
  • NP_001120934.2:p.Gln703Lys
  • NP_001230062.1:p.Gln703Lys
  • NP_004886.3:p.Gln705Lys
  • NP_004886.3:p.Gln705Lys
  • NP_899632.2:p.Gln703Lys
  • LRG_197t1:c.2113C>A
  • LRG_197:g.14384C>A
  • NC_000001.10:g.247588858C>A
  • Q96P20:p.Gln705Lys
Protein change:
Q703K
Links:
UniProtKB: Q96P20#VAR_043693; dbSNP: rs35829419
NCBI 1000 Genomes Browser:
rs35829419
Molecular consequence:
  • NM_001079821.2:c.2113C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079821.3:c.2107C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.2107C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.2107C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.2107C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.4:c.2113C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.2113C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.2107C>A - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000356978Illumina Clinical Services Laboratory,Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000356978.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 9, 2020