rs2109134
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000218032.7(TLR8):c.3+2358T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.91 ( 32285 hom., 29644 hem., cov: 22)
Failed GnomAD Quality Control
Consequence
TLR8
ENST00000218032.7 intron
ENST00000218032.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0350
Genes affected
TLR8 (HGNC:15632): (toll like receptor 8) The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.3+2358T>A | intron_variant | ENST00000218032.7 | NP_619542.1 | |||
TLR8-AS1 | NR_030727.1 | n.241-734A>T | intron_variant, non_coding_transcript_variant | |||||
TLR8 | NM_016610.4 | c.-80-1239T>A | intron_variant | NP_057694.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.3+2358T>A | intron_variant | 1 | NM_138636.5 | ENSP00000218032 | P2 | |||
TLR8 | ENST00000311912.5 | c.-80-1239T>A | intron_variant | 1 | ENSP00000312082 | A2 |
Frequencies
GnomAD3 genomes AF: 0.911 AC: 100432AN: 110188Hom.: 32288 Cov.: 22 AF XY: 0.914 AC XY: 29585AN XY: 32354
GnomAD3 genomes
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.911 AC: 100483AN: 110245Hom.: 32285 Cov.: 22 AF XY: 0.914 AC XY: 29644AN XY: 32421
GnomAD4 genome
Data not reliable, filtered out with message: InbreedingCoeff
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at