NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) AND Familial cold autoinflammatory syndrome 1

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Apr 28, 2017
Review status:: criteria provided, conflicting classifications

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:: RCV000626053.8

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)

Name:: Familial cold autoinflammatory syndrome 1 (FCAS1)
Synonyms:: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; Familial cold inflammatory syndrome 1
Identifiers:: MONDO: MONDO:0007349; MedGen: C4551895; Orphanet: 47045; OMIM: 120100

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000356984	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 28, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25821352, 25979514 Citation Link,
SCV000746675	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 20, 2016)	maternal	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

SCV000356984

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 28, 2017)

germline

clinical testing

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

Citation Link,

SCV000746675

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 20, 2016)

maternal

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
White	maternal	yes	4	1	not provided	not provided	yes	clinical testing

Citations

PubMed

Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.

Perko D, Debeljak M, Toplak N, Avčin T.

Mediators Inflamm. 2015;2015:293417. doi: 10.1155/2015/293417. Epub 2015 Mar 4.

PubMed [citation]

PMID:: 25821352
PMCID:: PMC4364074

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G, Grandemange S, Touitou I.

Expert Rev Clin Immunol. 2015;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15. Review.

PubMed [citation]

PMID:: 25979514

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000356984.3

#	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely 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

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	4	not provided	yes	clinical testing (GTR000553916.1)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided	(GTR000553916.1)	4	not provided	1	not provided

Last Updated: Nov 24, 2024

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