NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) AND COPD, severe early onset

Germline classification:: Likely risk allele (1 submission)
Last evaluated:: Sep 1, 2023
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:: RCV003390649.1

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:: COPD, severe early onset
Synonyms:: Pulmonary disease, chronic obstructive, severe early-onset
Identifiers:: MONDO: MONDO:0011751; MedGen: C1847014

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004101792	HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	no assertion criteria provided	Likely risk allele (Sep 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004101792

HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas

no assertion criteria provided

Likely risk allele
(Sep 1, 2023)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas, SCV004101792.1

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

Description

Allele associated with the development of COPD secondary to tobacco smoke

#	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: Sep 29, 2024

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