9-117712467-C-G
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_138554.5(TLR4):c.339C>G(p.Pro113Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P113P) has been classified as Benign.
Frequency
Consequence
NM_138554.5 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR4 | NM_138554.5 | c.339C>G | p.Pro113Pro | synonymous_variant | Exon 3 of 3 | ENST00000355622.8 | NP_612564.1 | |
TLR4 | NM_003266.4 | c.219C>G | p.Pro73Pro | synonymous_variant | Exon 4 of 4 | NP_003257.1 | ||
TLR4 | NM_138557.3 | c.-262C>G | 5_prime_UTR_variant | Exon 2 of 2 | NP_612567.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR4 | ENST00000355622.8 | c.339C>G | p.Pro113Pro | synonymous_variant | Exon 3 of 3 | 1 | NM_138554.5 | ENSP00000363089.5 | ||
ENSG00000285082 | ENST00000697666.1 | c.140+3738C>G | intron_variant | Intron 3 of 4 | ENSP00000513391.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at