X-12919236-A-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_138636.5(TLR8):āc.196A>Gā(p.Thr66Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000395 in 1,210,300 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 159 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T66S) 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 -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.196A>G | p.Thr66Ala | missense_variant | 2/2 | ENST00000218032.7 | |
TLR8-AS1 | NR_030727.1 | n.241-10903T>C | intron_variant, non_coding_transcript_variant | ||||
TLR8 | NM_016610.4 | c.250A>G | p.Thr84Ala | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.196A>G | p.Thr66Ala | missense_variant | 2/2 | 1 | NM_138636.5 | P2 | |
TLR8 | ENST00000311912.5 | c.250A>G | p.Thr84Ala | missense_variant | 3/3 | 1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000241 AC: 27AN: 112240Hom.: 0 Cov.: 23 AF XY: 0.000233 AC XY: 8AN XY: 34390
GnomAD3 exomes AF: 0.000175 AC: 32AN: 183037Hom.: 0 AF XY: 0.000207 AC XY: 14AN XY: 67613
GnomAD4 exome AF: 0.000411 AC: 451AN: 1098060Hom.: 0 Cov.: 31 AF XY: 0.000416 AC XY: 151AN XY: 363416
GnomAD4 genome AF: 0.000241 AC: 27AN: 112240Hom.: 0 Cov.: 23 AF XY: 0.000233 AC XY: 8AN XY: 34390
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.196A>G (p.T66A) alteration is located in exon 2 (coding exon 2) of the TLR8 gene. This alteration results from a A to G substitution at nucleotide position 196, causing the threonine (T) at amino acid position 66 to be replaced by an alanine (A). 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