rs5743318
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_003265.3(TLR3):c.2209T>A(p.Ser737Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00182 in 1,614,230 control chromosomes in the GnomAD database, including 45 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003265.3 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 |
---|---|---|---|---|---|---|---|
TLR3 | NM_003265.3 | c.2209T>A | p.Ser737Thr | missense_variant | 4/5 | ENST00000296795.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR3 | ENST00000296795.8 | c.2209T>A | p.Ser737Thr | missense_variant | 4/5 | 1 | NM_003265.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0102 AC: 1551AN: 152236Hom.: 28 Cov.: 32
GnomAD3 exomes AF: 0.00252 AC: 633AN: 251298Hom.: 8 AF XY: 0.00171 AC XY: 232AN XY: 135846
GnomAD4 exome AF: 0.000949 AC: 1388AN: 1461876Hom.: 17 Cov.: 36 AF XY: 0.000828 AC XY: 602AN XY: 727238
GnomAD4 genome AF: 0.0102 AC: 1553AN: 152354Hom.: 28 Cov.: 32 AF XY: 0.00950 AC XY: 708AN XY: 74514
ClinVar
Submissions by phenotype
Herpes simplex encephalitis, susceptibility to, 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at