chrX-12919236-A-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_138636.5(TLR8):c.196A>T(p.Thr66Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000392 in 1,098,060 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 16 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T66A) has been classified 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 -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.196A>T | p.Thr66Ser | missense_variant | 2/2 | ENST00000218032.7 | |
TLR8-AS1 | NR_030727.1 | n.241-10903T>A | intron_variant, non_coding_transcript_variant | ||||
TLR8 | NM_016610.4 | c.250A>T | p.Thr84Ser | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.196A>T | p.Thr66Ser | missense_variant | 2/2 | 1 | NM_138636.5 | P2 | |
TLR8 | ENST00000311912.5 | c.250A>T | p.Thr84Ser | missense_variant | 3/3 | 1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 23
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183037Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67613
GnomAD4 exome AF: 0.0000392 AC: 43AN: 1098060Hom.: 0 Cov.: 31 AF XY: 0.0000440 AC XY: 16AN XY: 363416
GnomAD4 genome ? Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.196A>T (p.T66S) alteration is located in exon 2 (coding exon 2) of the TLR8 gene. This alteration results from a A to T substitution at nucleotide position 196, causing the threonine (T) at amino acid position 66 to be replaced by a serine (S). 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