2-113008020-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014440.3(IL36A):c.453C>A(p.Asp151Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,614,166 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014440.3 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 |
---|---|---|---|---|---|---|---|---|
IL36A | NM_014440.3 | c.453C>A | p.Asp151Glu | missense_variant | Exon 4 of 4 | ENST00000259211.7 | NP_055255.1 | |
IL36A | XM_005263639.3 | c.453C>A | p.Asp151Glu | missense_variant | Exon 4 of 5 | XP_005263696.1 | ||
IL36A | XM_011510965.2 | c.453C>A | p.Asp151Glu | missense_variant | Exon 4 of 5 | XP_011509267.1 | ||
IL36A | XM_017003806.2 | c.453C>A | p.Asp151Glu | missense_variant | Exon 4 of 5 | XP_016859295.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249402Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135300
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727226
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.453C>A (p.D151E) alteration is located in exon 4 (coding exon 4) of the IL36A gene. This alteration results from a C to A substitution at nucleotide position 453, causing the aspartic acid (D) at amino acid position 151 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