rs5743699
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001318789.2(TLR2):c.1232C>T(p.Thr411Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00107 in 1,613,496 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts 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_001318789.2 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 |
---|---|---|---|---|---|---|---|
TLR2 | NM_001318789.2 | c.1232C>T | p.Thr411Ile | missense_variant | 3/3 | ENST00000642700.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR2 | ENST00000642700.2 | c.1232C>T | p.Thr411Ile | missense_variant | 3/3 | NM_001318789.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00126 AC: 191AN: 152184Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00470 AC: 1173AN: 249672Hom.: 27 AF XY: 0.00364 AC XY: 492AN XY: 135162
GnomAD4 exome AF: 0.00105 AC: 1534AN: 1461194Hom.: 31 Cov.: 35 AF XY: 0.000923 AC XY: 671AN XY: 726828
GnomAD4 genome ? AF: 0.00125 AC: 190AN: 152302Hom.: 5 Cov.: 32 AF XY: 0.00132 AC XY: 98AN XY: 74478
ClinVar
Submissions by phenotype
TLR2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 05, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at