NM_006068.5:c.1775G>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006068.5(TLR6):c.1775G>A(p.Gly592Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. G592V) has been classified as Likely benign.
Frequency
Consequence
NM_006068.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TLR6 | ENST00000508254.6 | c.1775G>A | p.Gly592Asp | missense_variant | Exon 2 of 2 | 1 | NM_006068.5 | ENSP00000424718.2 | ||
TLR6 | ENST00000381950.2 | c.1775G>A | p.Gly592Asp | missense_variant | Exon 3 of 3 | 6 | ENSP00000371376.1 | |||
TLR1 | ENST00000506146.5 | c.-352-22506G>A | intron_variant | Intron 1 of 5 | 4 | ENSP00000423725.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461702Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 727174
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.