X-12919161-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138636.5(TLR8):c.121C>A(p.Gln41Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000165 in 1,210,264 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138636.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.121C>A | p.Gln41Lys | missense_variant | Exon 2 of 2 | ENST00000218032.7 | NP_619542.1 | |
TLR8 | NM_016610.4 | c.175C>A | p.Gln59Lys | missense_variant | Exon 3 of 3 | NP_057694.2 | ||
TLR8-AS1 | NR_030727.1 | n.241-10828G>T | intron_variant | Intron 2 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000892 AC: 1AN: 112100Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34268
GnomAD4 exome AF: 9.11e-7 AC: 1AN: 1098164Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363528
GnomAD4 genome AF: 0.00000892 AC: 1AN: 112100Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34268
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.121C>A (p.Q41K) alteration is located in exon 2 (coding exon 2) of the TLR8 gene. This alteration results from a C to A substitution at nucleotide position 121, causing the glutamine (Q) at amino acid position 41 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at