rs1265230096
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_012275.3(IL36RN):c.200G>A(p.Cys67Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,842 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C67F) has been classified as Uncertain significance.
Frequency
Consequence
NM_012275.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL36RN | NM_012275.3 | c.200G>A | p.Cys67Tyr | missense_variant | 4/5 | ENST00000393200.7 | |
IL36RN | NM_173170.1 | c.200G>A | p.Cys67Tyr | missense_variant | 4/5 | ||
IL36RN | XM_047443918.1 | c.200G>A | p.Cys67Tyr | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL36RN | ENST00000393200.7 | c.200G>A | p.Cys67Tyr | missense_variant | 4/5 | 1 | NM_012275.3 | P1 | |
IL36RN | ENST00000346807.7 | c.200G>A | p.Cys67Tyr | missense_variant | 4/5 | 1 | P1 | ||
IL36RN | ENST00000437409.2 | c.200G>A | p.Cys67Tyr | missense_variant | 3/4 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461842Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727216
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at