chrX-12919693-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_138636.5(TLR8):c.653C>A(p.Pro218His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000166 in 1,208,359 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. 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.653C>A | p.Pro218His | missense_variant | 2/2 | ENST00000218032.7 | |
TLR8-AS1 | NR_030727.1 | n.241-11360G>T | intron_variant, non_coding_transcript_variant | ||||
TLR8 | NM_016610.4 | c.707C>A | p.Pro236His | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.653C>A | p.Pro218His | missense_variant | 2/2 | 1 | NM_138636.5 | P2 | |
TLR8 | ENST00000311912.5 | c.707C>A | p.Pro236His | missense_variant | 3/3 | 1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000898 AC: 1AN: 111360Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33546
GnomAD3 exomes AF: 0.00000550 AC: 1AN: 181719Hom.: 0 AF XY: 0.0000150 AC XY: 1AN XY: 66545
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1096999Hom.: 0 Cov.: 34 AF XY: 0.00000276 AC XY: 1AN XY: 362375
GnomAD4 genome ? AF: 0.00000898 AC: 1AN: 111360Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33546
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden | Nov 22, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at