NM_016232.5:c.245C>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016232.5(IL1RL1):c.245C>G(p.Ser82Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,254 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016232.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461254Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726982
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.245C>G (p.S82C) alteration is located in exon 3 (coding exon 2) of the IL1RL1 gene. This alteration results from a C to G substitution at nucleotide position 245, causing the serine (S) at amino acid position 82 to be replaced by a cysteine (C). 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