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NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 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:
RCV000221611.1

Allele description

NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro)

Gene:
NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro)
HGVS:
  • NC_000001.11:g.247424363T>C
  • NG_007509.2:g.13191T>C
  • NM_001243133.1:c.914T>C
  • NM_004895.4:c.920T>C
  • NM_183395.2:c.920T>C
  • NP_001230062.1:p.Leu305Pro
  • NP_004886.3:p.Leu307Pro
  • NP_899632.1:p.Leu307Pro
  • LRG_197t1:c.920T>C
  • LRG_197:g.13191T>C
  • LRG_197p1:p.Leu307Pro
  • NC_000001.10:g.247587665T>C
Protein change:
L305P
Links:
dbSNP: rs180177431
NCBI 1000 Genomes Browser:
rs180177431
Molecular consequence:
  • NM_004895.4:c.920T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278940GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 26, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278940.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The L307P missense mutation in the NLRP3 gene has been reported previously in association with Familial Cold Urticaria (Aganna et al., 2002) and its presence is consistent with a diagnosis of a cryopyrin-associated disease. The L307P mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The mutation is a semi-conservative amino acid substitution and occurs at a position within the NACHT domain that is conserved in mammals. Missense mutations in nearby residues (D305H/N/G, E306K, Q308K) have been reported in the Human Gene Mutation Database in association with familial cold autoinflammatory syndrome/CINCA/Muckle-Wells syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein.

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

Last Updated: Oct 2, 2016