rs5743808
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006068.5(TLR6):c.359T>C(p.Ile120Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0112 in 1,614,110 control chromosomes in the GnomAD database, including 649 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I120V) has been classified as Likely benign.
Frequency
Consequence
NM_006068.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR6 | NM_006068.5 | c.359T>C | p.Ile120Thr | missense_variant | 2/2 | ENST00000508254.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR6 | ENST00000508254.6 | c.359T>C | p.Ile120Thr | missense_variant | 2/2 | 1 | NM_006068.5 | P1 | |
TLR6 | ENST00000381950.2 | c.359T>C | p.Ile120Thr | missense_variant | 3/3 | P1 | |||
TLR1 | ENST00000506146.5 | c.-352-23922T>C | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0322 AC: 4905AN: 152196Hom.: 228 Cov.: 33
GnomAD3 exomes AF: 0.0192 AC: 4820AN: 251300Hom.: 177 AF XY: 0.0186 AC XY: 2528AN XY: 135826
GnomAD4 exome AF: 0.00894 AC: 13075AN: 1461796Hom.: 415 Cov.: 33 AF XY: 0.00966 AC XY: 7027AN XY: 727184
GnomAD4 genome ? AF: 0.0324 AC: 4939AN: 152314Hom.: 234 Cov.: 33 AF XY: 0.0324 AC XY: 2414AN XY: 74474
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at