NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jul 1, 2023
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:: RCV001172030.26

Allele description [Variation Report for NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)]

NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)

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.2176A>G (p.Ser726Gly)

HGVS:

NC_000001.11:g.247429610A>G
NG_007509.2:g.18438A>G
NM_001079821.3:c.2176A>G
NM_001127461.3:c.2176A>G
NM_001127462.3:c.2150+4011A>G
NM_001243133.2:c.2176A>GMANE SELECT
NM_004895.5:c.2182A>G
NM_183395.3:c.2150+4011A>G
NP_001073289.1:p.Ser728Gly
NP_001073289.2:p.Ser726Gly
NP_001120933.2:p.Ser726Gly
NP_001230062.1:p.Ser726Gly
NP_004886.3:p.Ser728Gly
NP_004886.3:p.Ser728Gly
LRG_197t1:c.2182A>G
LRG_197:g.18438A>G
LRG_197p1:p.Ser728Gly
NC_000001.10:g.247592912A>G
NM_001079821.2:c.2182A>G
NM_001127462.2:c.2156+4011A>G
NM_004895.4:c.2182A>G
p.S728G
p.Ser728Gly

Protein change:

S726G

Links:

dbSNP: rs147946775

NCBI 1000 Genomes Browser:

rs147946775

Molecular consequence:

NM_001127462.3:c.2150+4011A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_183395.3:c.2150+4011A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001079821.3:c.2176A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127461.3:c.2176A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243133.2:c.2176A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004895.5:c.2182A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000278947	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 21, 2021)	germline	clinical testing	Citation Link,
SCV000604552	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Apr 18, 2023)	germline	clinical testing	Citation Link,
SCV001334959	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jul 1, 2023)	germline	clinical testing	Citation Link,
SCV001978086	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001980001	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000278947.5

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

Description

This variant is associated with the following publications: (PMID: 25821352)

#	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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604552.2

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001334959.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided

Description

NLRP3: BP4, BS1, BS2

#	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		5	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001978086.1

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

#	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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001980001.1

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

#	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: Nov 24, 2024

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