NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 2013
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:: RCV000216089.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg)]

NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg)

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.386A>G (p.Lys129Arg)

HGVS:

NC_000001.11:g.247423338A>G
NG_007509.2:g.12166A>G
NM_001079821.3:c.386A>G
NM_001127461.3:c.386A>G
NM_001127462.3:c.386A>G
NM_001243133.2:c.386A>GMANE SELECT
NM_004895.5:c.392A>G
NM_183395.3:c.386A>G
NP_001073289.2:p.Lys129Arg
NP_001120933.2:p.Lys129Arg
NP_001120934.2:p.Lys129Arg
NP_001230062.1:p.Lys129Arg
NP_004886.3:p.Lys131Arg
NP_004886.3:p.Lys131Arg
NP_899632.2:p.Lys129Arg
LRG_197t1:c.392A>G
LRG_197:g.12166A>G
LRG_197p1:p.Lys131Arg
NC_000001.10:g.247586640A>G
NM_004895.4:c.392A>G

Protein change:

K129R

Links:

dbSNP: rs188623199

NCBI 1000 Genomes Browser:

rs188623199

Molecular consequence:

NM_001079821.3:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127461.3:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127462.3:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243133.2:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004895.5:c.392A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_183395.3:c.386A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000278933	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 19, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000278933

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 19, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000278933.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

To our knowledge, the K131R missense substitution in the NLRP3 gene has neither been published as a mutation, nor reported as a benign polymorphism. K131R represents a conservative amino acid substitution as both Lysine and Arginine are positively-charged amino acids. The position in the NLRP3 protein where this substitution occurs is moderately conserved among species; although, very few mutations have been reported outside of exon 3 of the NLRP3 gene. However, a missense substitution in a neighboring codon (R137H aka R135H) has been reported in an individual with a diagnosis of Muckle-Wells syndrome (Lainka et al., 2010). Therefore, based on the currently available information, it is unclear whether K131R is a disease-causing mutation or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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