chr9-6254512-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033439.4(IL33):c.571G>C(p.Asp191His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000451 in 1,596,700 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_033439.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL33 | NM_033439.4 | c.571G>C | p.Asp191His | missense_variant | 7/8 | ENST00000682010.1 | |
LOC107987046 | XR_001746614.2 | n.153-26217C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL33 | ENST00000682010.1 | c.571G>C | p.Asp191His | missense_variant | 7/8 | NM_033439.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000593 AC: 9AN: 151722Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000562 AC: 14AN: 249102Hom.: 0 AF XY: 0.0000668 AC XY: 9AN XY: 134648
GnomAD4 exome AF: 0.0000436 AC: 63AN: 1444978Hom.: 0 Cov.: 29 AF XY: 0.0000543 AC XY: 39AN XY: 718734
GnomAD4 genome ? AF: 0.0000593 AC: 9AN: 151722Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74064
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 12, 2024 | The c.571G>C (p.D191H) alteration is located in exon 7 (coding exon 6) of the IL33 gene. This alteration results from a G to C substitution at nucleotide position 571, causing the aspartic acid (D) at amino acid position 191 to be replaced by a histidine (H). 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