NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser) AND Familial amyloid nephropathy with urticaria AND deafness

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 6, 2017
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:: RCV001098562.4

Allele description [Variation Report for NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser)]

NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser)

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.2425G>A (p.Gly809Ser)

HGVS:

NC_000001.11:g.247434206G>A
NG_007509.2:g.23034G>A
NM_001079821.3:c.2425G>A
NM_001127461.3:c.2425G>A
NM_001127462.3:c.2254G>A
NM_001243133.2:c.2425G>AMANE SELECT
NM_004895.5:c.2431G>A
NM_183395.3:c.2254G>A
NP_001073289.2:p.Gly809Ser
NP_001120933.2:p.Gly809Ser
NP_001120934.2:p.Gly752Ser
NP_001230062.1:p.Gly809Ser
NP_004886.3:p.Gly811Ser
NP_004886.3:p.Gly811Ser
NP_899632.2:p.Gly752Ser
LRG_197t1:c.2431G>A
LRG_197:g.23034G>A
LRG_197p1:p.Gly811Ser
NC_000001.10:g.247597508G>A
NM_004895.4:c.2431G>A

Protein change:

G752S

Links:

dbSNP: rs141389711

NCBI 1000 Genomes Browser:

rs141389711

Molecular consequence:

NM_001079821.3:c.2425G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127461.3:c.2425G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127462.3:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001243133.2:c.2425G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004895.5:c.2431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_183395.3:c.2254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001254936	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Sep 6, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22193915, 23015306 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001254936

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Sep 6, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

Ohnishi H, Teramoto T, Iwata H, Kato Z, Kimura T, Kubota K, Nishikomori R, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2012 Apr;32(2):221-9. doi: 10.1007/s10875-011-9629-0. Epub 2011 Dec 24.

PubMed [citation]

PMID:: 22193915

In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Kubota K, Ohnishi H, Teramoto T, Matsui E, Murase K, Kanoh H, Kato Z, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2013 Feb;33(2):325-34. doi: 10.1007/s10875-012-9805-x. Epub 2012 Sep 27.

PubMed [citation]

PMID:: 23015306

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001254936.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Apr 6, 2024

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