rs749099078
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033035.5(TSLP):āc.445C>Gā(p.Arg149Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033035.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSLP | ENST00000344895.4 | c.445C>G | p.Arg149Gly | missense_variant | Exon 4 of 4 | 1 | NM_033035.5 | ENSP00000339804.3 | ||
TSLP | ENST00000420978.6 | c.445C>G | p.Arg149Gly | missense_variant | Exon 5 of 5 | 1 | ENSP00000399099.2 | |||
TSLP | ENST00000379706.4 | c.157C>G | p.Arg53Gly | missense_variant | Exon 2 of 2 | 1 | ENSP00000427827.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251288Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135818
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461762Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727174
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at