rs5743816
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_006068.5(TLR6):c.1393G>A(p.Val465Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00568 in 1,613,944 control chromosomes in the GnomAD database, including 306 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). 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 -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR6 | NM_006068.5 | c.1393G>A | p.Val465Ile | missense_variant | 2/2 | ENST00000508254.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR6 | ENST00000508254.6 | c.1393G>A | p.Val465Ile | missense_variant | 2/2 | 1 | NM_006068.5 | P1 | |
TLR6 | ENST00000381950.2 | c.1393G>A | p.Val465Ile | missense_variant | 3/3 | P1 | |||
TLR1 | ENST00000506146.5 | c.-352-22888G>A | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0234 AC: 3554AN: 152160Hom.: 156 Cov.: 33
GnomAD3 exomes AF: 0.00830 AC: 2087AN: 251366Hom.: 64 AF XY: 0.00735 AC XY: 999AN XY: 135884
GnomAD4 exome AF: 0.00383 AC: 5597AN: 1461666Hom.: 146 Cov.: 37 AF XY: 0.00395 AC XY: 2870AN XY: 727158
GnomAD4 genome ? AF: 0.0235 AC: 3574AN: 152278Hom.: 160 Cov.: 33 AF XY: 0.0239 AC XY: 1777AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 31, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at