rs5743733
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016562.4(TLR7):c.3+4008C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0975 in 111,900 control chromosomes in the GnomAD database, including 447 homozygotes. There are 3,139 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016562.4 intron
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 | UniProt |
---|---|---|---|---|---|---|---|
TLR7 | NM_016562.4 | c.3+4008C>G | intron_variant | ENST00000380659.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR7 | ENST00000380659.4 | c.3+4008C>G | intron_variant | 1 | NM_016562.4 | P1 | |||
TLR7 | ENST00000484204.1 | n.103+4008C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0975 AC: 10910AN: 111847Hom.: 449 Cov.: 23 AF XY: 0.0921 AC XY: 3134AN XY: 34015
GnomAD4 genome AF: 0.0975 AC: 10906AN: 111900Hom.: 447 Cov.: 23 AF XY: 0.0921 AC XY: 3139AN XY: 34078
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at