chr10-5963764-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002189.4(IL15RA):c.361A>G(p.Ser121Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,521,962 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 (★).
Frequency
Consequence
NM_002189.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000644 AC: 11AN: 170740Hom.: 0 AF XY: 0.0000528 AC XY: 5AN XY: 94748
GnomAD4 exome AF: 0.0000139 AC: 19AN: 1369872Hom.: 0 Cov.: 31 AF XY: 0.0000147 AC XY: 10AN XY: 679228
GnomAD4 genome AF: 0.000197 AC: 30AN: 152090Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.361A>G (p.S121G) alteration is located in exon 3 (coding exon 3) of the IL15RA gene. This alteration results from a A to G substitution at nucleotide position 361, causing the serine (S) at amino acid position 121 to be replaced by a glycine (G). 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