2-113006064-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014440.3(IL36A):c.101C>T(p.Pro34Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,612,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL36A | NM_014440.3 | c.101C>T | p.Pro34Leu | missense_variant | Exon 2 of 4 | ENST00000259211.7 | NP_055255.1 | |
IL36A | XM_005263639.3 | c.101C>T | p.Pro34Leu | missense_variant | Exon 2 of 5 | XP_005263696.1 | ||
IL36A | XM_011510965.2 | c.101C>T | p.Pro34Leu | missense_variant | Exon 2 of 5 | XP_011509267.1 | ||
IL36A | XM_017003806.2 | c.101C>T | p.Pro34Leu | missense_variant | Exon 2 of 5 | XP_016859295.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152066Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249536Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135376
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1460736Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 6AN XY: 726742
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152066Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74262
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.101C>T (p.P34L) alteration is located in exon 2 (coding exon 2) of the IL36A gene. This alteration results from a C to T substitution at nucleotide position 101, causing the proline (P) at amino acid position 34 to be replaced by a leucine (L). 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