U.S. flag

An official website of the United States government

NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) AND Pericementitis

Germline classification:
protective (1 submission)
Last evaluated:
Dec 3, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001729340.2

Allele description [Variation Report for NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)]

NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)

Gene:
TLR4:toll like receptor 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q33.1
Genomic location:
Preferred name:
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)
HGVS:
  • NC_000009.12:g.117713024A>G
  • NG_011475.1:g.13843A>G
  • NG_011475.2:g.13622A>G
  • NM_003266.4:c.776A>G
  • NM_138554.5:c.896A>GMANE SELECT
  • NM_138557.3:c.296A>G
  • NP_003257.1:p.Asp259Gly
  • NP_612564.1:p.Asp299Gly
  • NP_612567.1:p.Asp99Gly
  • LRG_320t1:c.896A>G
  • LRG_320:g.13622A>G
  • LRG_320p1:p.Asp299Gly
  • NC_000009.11:g.120475302A>G
  • O00206:p.Asp299Gly
Protein change:
D259G; Asp299Gly
Links:
UniProtKB: O00206#VAR_012739; OMIM: 603030.0001; dbSNP: rs4986790
NCBI 1000 Genomes Browser:
rs4986790
Molecular consequence:
  • NM_003266.4:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138554.5:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138557.3:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Increased function

Condition(s)

Name:
Pericementitis
Identifiers:
MeSH: D010518; MedGen: C0031051

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571195OsteoImmunology Lab, Universidade de Sao Paulo
no assertion criteria provided
protective
(Dec 3, 2018) 		somaticcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanic, Cuacasianssomaticyes128128not providednot providednot providedcase-control

Citations

PubMed

TLR4 Asp299Gly polymorphism may be protective against chronic periodontitis.

Sellers RM, Payne JB, Yu F, LeVan TD, Walker C, Mikuls TR.

J Periodontal Res. 2016 Apr;51(2):203-11. doi: 10.1111/jre.12299. Epub 2015 Jul 14.

PubMed [citation]
PMID:
26174031

Genetic polymorphisms in pattern recognition receptors and risk of periodontitis: Evidence based on 12,793 subjects.

Han MX, Ding C, Kyung HM.

Hum Immunol. 2015 Jul;76(7):496-504. doi: 10.1016/j.humimm.2015.06.006. Epub 2015 Jun 12.

PubMed [citation]
PMID:
26079505

Details of each submission

From OsteoImmunology Lab, Universidade de Sao Paulo, SCV001571195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic, Cuacasians128not providednot providedcase-control PubMed (2)

Description

G polymorphic variant was present with a MAF 0.0497 (0.03472 affected and 0.05865 unaffected individuals)

Description

In an exploratory population (N=570, 186 cases/ 384 controls), rs4986790 demonstrated a significant protective effect for the phenotype of chronic periodontitis [OR 0.3315, CI 0.14-0.75, p-value 0.005] . The association analysis combining the exploratory and three independent validation populations (N=1410; 528 cases and 882 controls) demonstrated a significant protective effect of the polymorphic allele for the phenotype ‘susceptibility for inflammatory alveolar bone resorption’ [OR 0.57, CI 0.38-0.85, p-value 0.005].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided128not provided128not provided

Last Updated: Sep 29, 2024