rs2407992
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_138636.5(TLR8):c.1953G>A(p.Leu651Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000273 in 1,097,639 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. 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
Consequence
NM_138636.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.1953G>A | p.Leu651Leu | synonymous_variant | 2/2 | ENST00000218032.7 | NP_619542.1 | |
TLR8 | NM_016610.4 | c.2007G>A | p.Leu669Leu | synonymous_variant | 3/3 | NP_057694.2 | ||
TLR8-AS1 | NR_030727.1 | n.241-12660C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.1953G>A | p.Leu651Leu | synonymous_variant | 2/2 | 1 | NM_138636.5 | ENSP00000218032.7 | ||
TLR8 | ENST00000311912.5 | c.2007G>A | p.Leu669Leu | synonymous_variant | 3/3 | 1 | ENSP00000312082.5 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097639Hom.: 0 Cov.: 34 AF XY: 0.00000551 AC XY: 2AN XY: 363025
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at