5-111071960-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033035.5(TSLP):āc.70G>Cā(p.Gly24Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,196 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TSLP | NM_033035.5 | c.70G>C | p.Gly24Arg | missense_variant | Exon 1 of 4 | ENST00000344895.4 | NP_149024.1 | |
TSLP | XM_047417846.1 | c.40G>C | p.Gly14Arg | missense_variant | Exon 2 of 5 | XP_047273802.1 | ||
TSLP | XM_047417847.1 | c.-93G>C | 5_prime_UTR_variant | Exon 2 of 5 | XP_047273803.1 | |||
TSLP | NR_045089.2 | n.1492G>C | non_coding_transcript_exon_variant | Exon 2 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TSLP | ENST00000344895.4 | c.70G>C | p.Gly24Arg | missense_variant | Exon 1 of 4 | 1 | NM_033035.5 | ENSP00000339804.3 | ||
TSLP | ENST00000420978.6 | c.70G>C | p.Gly24Arg | missense_variant | Exon 2 of 5 | 1 | ENSP00000399099.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461862Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727232
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.70G>C (p.G24R) alteration is located in exon 1 (coding exon 1) of the TSLP gene. This alteration results from a G to C substitution at nucleotide position 70, causing the glycine (G) at amino acid position 24 to be replaced by an arginine (R). 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