5-111076004-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033035.5(TSLP):āc.410G>Cā(p.Cys137Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00023 in 1,614,004 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_033035.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSLP | ENST00000344895.4 | c.410G>C | p.Cys137Ser | missense_variant | Exon 4 of 4 | 1 | NM_033035.5 | ENSP00000339804.3 | ||
TSLP | ENST00000420978.6 | c.410G>C | p.Cys137Ser | missense_variant | Exon 5 of 5 | 1 | ENSP00000399099.2 | |||
TSLP | ENST00000379706.4 | c.122G>C | p.Cys41Ser | missense_variant | Exon 2 of 2 | 1 | ENSP00000427827.1 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251334Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135840
GnomAD4 exome AF: 0.000239 AC: 349AN: 1461786Hom.: 0 Cov.: 30 AF XY: 0.000241 AC XY: 175AN XY: 727192
GnomAD4 genome AF: 0.000145 AC: 22AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.410G>C (p.C137S) alteration is located in exon 4 (coding exon 4) of the TSLP gene. This alteration results from a G to C substitution at nucleotide position 410, causing the cysteine (C) at amino acid position 137 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at