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NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 6, 2023
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:
RCV003736394.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr)]

NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr)

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.1535G>A (p.Cys512Tyr)
HGVS:
  • NC_000001.11:g.247424984G>A
  • NG_007509.2:g.13812G>A
  • NM_001079821.3:c.1535G>A
  • NM_001127461.3:c.1535G>A
  • NM_001127462.3:c.1535G>A
  • NM_001243133.2:c.1535G>AMANE SELECT
  • NM_004895.5:c.1541G>A
  • NM_183395.3:c.1535G>A
  • NP_001073289.2:p.Cys512Tyr
  • NP_001120933.2:p.Cys512Tyr
  • NP_001120934.2:p.Cys512Tyr
  • NP_001230062.1:p.Cys512Tyr
  • NP_004886.3:p.Cys514Tyr
  • NP_004886.3:p.Cys514Tyr
  • NP_899632.2:p.Cys512Tyr
  • LRG_197t1:c.1541G>A
  • LRG_197:g.13812G>A
  • LRG_197p1:p.Cys514Tyr
  • NC_000001.10:g.247588286G>A
  • NM_004895.4:c.1541G>A
Protein change:
C512Y
Molecular consequence:
  • NM_001079821.3:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004564220ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Nov 6, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NLRP3 c.1541G>A; p.Cys514Tyr variant (rs1428174026), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The cysteine at codon 514 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.485). Due to limited information, the clinical significance of this variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024