chrX-12920212-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_138636.5(TLR8):c.1172T>C(p.Met391Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000654 in 1,207,843 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 25 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 -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR8 | NM_138636.5 | c.1172T>C | p.Met391Thr | missense_variant | 2/2 | ENST00000218032.7 | |
TLR8-AS1 | NR_030727.1 | n.241-11879A>G | intron_variant, non_coding_transcript_variant | ||||
TLR8 | NM_016610.4 | c.1226T>C | p.Met409Thr | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR8 | ENST00000218032.7 | c.1172T>C | p.Met391Thr | missense_variant | 2/2 | 1 | NM_138636.5 | P2 | |
TLR8 | ENST00000311912.5 | c.1226T>C | p.Met409Thr | missense_variant | 3/3 | 1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000357 AC: 4AN: 112176Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34316
GnomAD3 exomes AF: 0.0000166 AC: 3AN: 180743Hom.: 0 AF XY: 0.0000152 AC XY: 1AN XY: 65639
GnomAD4 exome AF: 0.0000685 AC: 75AN: 1095667Hom.: 0 Cov.: 34 AF XY: 0.0000692 AC XY: 25AN XY: 361225
GnomAD4 genome ? AF: 0.0000357 AC: 4AN: 112176Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34316
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2022 | TLR8: PM2, BP4 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at