5-111073569-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_033035.5(TSLP):āc.275C>Gā(p.Ser92Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,876 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.275C>G | p.Ser92Trp | missense_variant | Exon 3 of 4 | 1 | NM_033035.5 | ENSP00000339804.3 | ||
TSLP | ENST00000420978.6 | c.275C>G | p.Ser92Trp | missense_variant | Exon 4 of 5 | 1 | ENSP00000399099.2 | |||
TSLP | ENST00000379706 | c.-14C>G | 5_prime_UTR_variant | Exon 1 of 2 | 1 | ENSP00000427827.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251478Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135914
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461876Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.275C>G (p.S92W) alteration is located in exon 3 (coding exon 3) of the TSLP gene. This alteration results from a C to G substitution at nucleotide position 275, causing the serine (S) at amino acid position 92 to be replaced by a tryptophan (W). 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