2-112980128-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019618.4(IL36G):c.280C>G(p.Gln94Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,614,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019618.4 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: 0.0000197 AC: 3AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250762Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135578
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461714Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 727142
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.280C>G (p.Q94E) alteration is located in exon 4 (coding exon 3) of the IL36G gene. This alteration results from a C to G substitution at nucleotide position 280, causing the glutamine (Q) at amino acid position 94 to be replaced by a glutamic acid (E). 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