NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 3, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000493260.5

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)]

NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)

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.1021G>A (p.Glu341Lys)

HGVS:

NC_000001.11:g.247424470G>A
NG_007509.2:g.13298G>A
NM_001079821.3:c.1021G>A
NM_001127461.3:c.1021G>A
NM_001127462.3:c.1021G>A
NM_001243133.2:c.1021G>AMANE SELECT
NM_004895.5:c.1027G>A
NM_183395.3:c.1021G>A
NP_001073289.2:p.Glu341Lys
NP_001120933.2:p.Glu341Lys
NP_001120934.2:p.Glu341Lys
NP_001230062.1:p.Glu341Lys
NP_004886.3:p.Glu343Lys
NP_004886.3:p.Glu343Lys
NP_899632.2:p.Glu341Lys
LRG_197t1:c.1027G>A
LRG_197:g.13298G>A
LRG_197p1:p.Glu343Lys
NC_000001.10:g.247587772G>A
NM_004895.4:c.1027G>A

Protein change:

E341K

Links:

dbSNP: rs369910640

NCBI 1000 Genomes Browser:

rs369910640

Molecular consequence:

NM_001079821.3:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127461.3:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127462.3:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001243133.2:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004895.5:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_183395.3:c.1021G>A - 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
SCV000581816	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 3, 2024)	germline	clinical testing	Citation Link,
SCV003815957	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 30, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000581816

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 3, 2024)

germline

clinical testing

Citation Link,

SCV003815957

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 30, 2022)

germline

clinical testing

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

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV000581816.5

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

Description

Reported as a variant of uncertain significance but additional evidence is not available (PMID: 32082075); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as E341K; This variant is associated with the following publications: (PMID: 19302049, 32082075)

#	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

From Revvity Omics, Revvity, SCV003815957.2

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

#	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: Oct 8, 2024

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