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NM_003265.2(TLR3):c.889C>G (p.Leu297Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
May 7, 2018
Accession:
VCV000495314.1
Variation ID:
495314
Description:
single nucleotide variant
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NM_003265.2(TLR3):c.889C>G (p.Leu297Val)

Allele ID
486809
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.1
Genomic location
4: 186082575 (GRCh38) GRCh38 UCSC
4: 187003729 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_117:g.18421C>G
NC_000004.11:g.187003729C>G
NC_000004.12:g.186082575C>G
... more HGVS
Protein change
L297V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (G)

Allele frequency
1000 Genomes Project 0.00200
The Genome Aggregation Database (gnomAD) 0.00184
The Genome Aggregation Database (gnomAD), exomes 0.00152
Exome Aggregation Consortium (ExAC) 0.00151
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108
Trans-Omics for Precision Medicine (TOPMed) 0.00157
Links
dbSNP: rs35311343
OMIM: 603029.0007
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 7, 2018 RCV000647014.2
risk factor 1 no assertion criteria provided Aug 8, 2018 RCV000587900.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TLR3 - - GRCh38
GRCh37
39 146

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 07, 2018)
criteria provided, single submitter
Method: clinical testing
Herpes simplex encephalitis 1
Allele origin: germline
Invitae
Accession: SCV000768800.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with valine at codon 297 of the TLR3 protein (p.Leu297Val). The leucine residue is highly conserved and there is a ... (more)
risk factor
(Aug 08, 2018)
no assertion criteria provided
Method: literature only
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
Allele origin: germline
OMIM
Accession: SCV000693876.3
Submitted: (Mar 13, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Mørk N Genes and immunity 2015 PMID: 26513235

Record last updated Jun 13, 2019