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NM_001243133.2(NLRP3):c.1700A>G (p.Glu567Gly) AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 2, 2022
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:
RCV004584482.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1700A>G (p.Glu567Gly)]

NM_001243133.2(NLRP3):c.1700A>G (p.Glu567Gly)

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.1700A>G (p.Glu567Gly)
HGVS:
  • NC_000001.11:g.247425149A>G
  • NG_007509.2:g.13977A>G
  • NM_001079821.3:c.1700A>G
  • NM_001127461.3:c.1700A>G
  • NM_001127462.3:c.1700A>G
  • NM_001243133.2:c.1700A>GMANE SELECT
  • NM_004895.5:c.1706A>G
  • NM_183395.3:c.1700A>G
  • NP_001073289.2:p.Glu567Gly
  • NP_001120933.2:p.Glu567Gly
  • NP_001120934.2:p.Glu567Gly
  • NP_001230062.1:p.Glu567Gly
  • NP_004886.3:p.Glu569Gly
  • NP_899632.2:p.Glu567Gly
  • LRG_197:g.13977A>G
  • NC_000001.10:g.247588451A>G
Protein change:
E567G
Links:
dbSNP: rs2103112233
NCBI 1000 Genomes Browser:
rs2103112233
Molecular consequence:
  • NM_001079821.3:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002562221Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 2, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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 Institute of Human Genetics, University Hospital Muenster, SCV002562221.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PS2,PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024