2-102019762-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004633.4(IL1R2):āc.638A>Gā(p.His213Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000737 in 1,614,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H213Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_004633.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL1R2 | NM_004633.4 | c.638A>G | p.His213Arg | missense_variant | 5/9 | ENST00000332549.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL1R2 | ENST00000332549.8 | c.638A>G | p.His213Arg | missense_variant | 5/9 | 1 | NM_004633.4 | P1 | |
IL1R2 | ENST00000393414.6 | c.638A>G | p.His213Arg | missense_variant | 5/9 | 1 | P1 | ||
IL1R2 | ENST00000441002.1 | c.638A>G | p.His213Arg | missense_variant | 4/6 | 1 | |||
IL1R2 | ENST00000457817.5 | c.638A>G | p.His213Arg | missense_variant | 5/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251300Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135838
GnomAD4 exome AF: 0.0000746 AC: 109AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.0000660 AC XY: 48AN XY: 727228
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at