rs2289277
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000379706.4(TSLP):c.-214C>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000238 in 1,527,814 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000379706.4 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TSLP | NM_033035.5 | c.217-142C>A | intron_variant | ENST00000344895.4 | NP_149024.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSLP | ENST00000379706.4 | c.-214C>A | 5_prime_UTR_premature_start_codon_gain_variant | 1/2 | 1 | ENSP00000427827.1 | ||||
TSLP | ENST00000379706.4 | c.-214C>A | 5_prime_UTR_variant | 1/2 | 1 | ENSP00000427827.1 | ||||
TSLP | ENST00000344895.4 | c.217-142C>A | intron_variant | 1 | NM_033035.5 | ENSP00000339804.3 | ||||
TSLP | ENST00000420978.6 | c.217-142C>A | intron_variant | 1 | ENSP00000399099.2 |
Frequencies
GnomAD3 genomes AF: 0.00120 AC: 183AN: 151990Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000132 AC: 181AN: 1375704Hom.: 0 Cov.: 34 AF XY: 0.000117 AC XY: 79AN XY: 675632
GnomAD4 genome AF: 0.00120 AC: 182AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.00110 AC XY: 82AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at