chrX-12871589-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016562.4(TLR7):c.3+4008C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000536 in 111,924 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 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 -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TLR7 | NM_016562.4 | c.3+4008C>T | intron_variant | ENST00000380659.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TLR7 | ENST00000380659.4 | c.3+4008C>T | intron_variant | 1 | NM_016562.4 | P1 | |||
TLR7 | ENST00000484204.1 | n.103+4008C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000536 AC: 6AN: 111871Hom.: 0 Cov.: 23 AF XY: 0.0000588 AC XY: 2AN XY: 34027
GnomAD4 genome AF: 0.0000536 AC: 6AN: 111924Hom.: 0 Cov.: 23 AF XY: 0.0000587 AC XY: 2AN XY: 34090
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at