U.S. flag

An official website of the United States government

NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 29, 2021
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:
RCV002476928.8

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)]

NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)

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.1316C>T (p.Ala439Val)
HGVS:
  • NC_000001.11:g.247424765C>T
  • NG_007509.2:g.13593C>T
  • NM_001079821.3:c.1316C>T
  • NM_001127461.3:c.1316C>T
  • NM_001127462.3:c.1316C>T
  • NM_001243133.2:c.1316C>TMANE SELECT
  • NM_004895.5:c.1322C>T
  • NM_183395.3:c.1316C>T
  • NP_001073289.2:p.Ala439Val
  • NP_001120933.2:p.Ala439Val
  • NP_001120934.2:p.Ala439Val
  • NP_001230062.1:p.Ala439Val
  • NP_001230062.1:p.Ala439Val
  • NP_004886.3:p.Ala441Val
  • NP_004886.3:p.Ala441Val
  • NP_899632.2:p.Ala439Val
  • LRG_197t1:c.1322C>T
  • LRG_197:g.13593C>T
  • LRG_197p1:p.Ala441Val
  • NC_000001.10:g.247588067C>T
  • NM_001243133.1:c.1316C>T
  • NM_004895.4:c.1322C>T
Protein change:
A439V; ALA439VAL
Links:
OMIM: 606416.0001; dbSNP: rs121908146
NCBI 1000 Genomes Browser:
rs121908146
Molecular consequence:
  • NM_001079821.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1316C>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:
Keratitis fugax hereditaria
Synonyms:
KERATOENDOTHELIITIS FUGAX HEREDITARIA
Identifiers:
MONDO: MONDO:0007849; MedGen: C1835697; OMIM: 148200
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; Familial cold inflammatory syndrome 1
Identifiers:
MONDO: MONDO:0007349; MedGen: C4551895; Orphanet: 47045; OMIM: 120100
Name:
Hearing loss, autosomal dominant 34, with or without inflammation
Synonyms:
Deafness, autosomal dominant 34, with or without inflammation
Identifiers:
MONDO: MONDO:0033261; MedGen: C4521680; OMIM: 617772

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
SCV002784124Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 29, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002784124.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024