rs35220466
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_006068.5(TLR6):c.740G>A(p.Arg247Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000863 in 1,613,838 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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.
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TLR6 | NM_006068.5 | c.740G>A | p.Arg247Lys | missense_variant | 2/2 | ENST00000508254.6 | NP_006059.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR6 | ENST00000508254.6 | c.740G>A | p.Arg247Lys | missense_variant | 2/2 | 1 | NM_006068.5 | ENSP00000424718.2 | ||
TLR6 | ENST00000381950.2 | c.740G>A | p.Arg247Lys | missense_variant | 3/3 | 6 | ENSP00000371376.1 | |||
TLR1 | ENST00000506146.5 | c.-352-23541G>A | intron_variant | 4 | ENSP00000423725.1 |
Frequencies
GnomAD3 genomes AF: 0.00430 AC: 654AN: 152192Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.00111 AC: 278AN: 250730Hom.: 4 AF XY: 0.000833 AC XY: 113AN XY: 135672
GnomAD4 exome AF: 0.000506 AC: 739AN: 1461528Hom.: 8 Cov.: 33 AF XY: 0.000481 AC XY: 350AN XY: 727020
GnomAD4 genome AF: 0.00429 AC: 654AN: 152310Hom.: 3 Cov.: 33 AF XY: 0.00428 AC XY: 319AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at