rs1035130
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003855.5(IL18R1):c.753C>A(p.Phe251Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003855.5 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 |
---|---|---|---|---|---|---|---|
IL18R1 | NM_003855.5 | c.753C>A | p.Phe251Leu | missense_variant | 7/11 | ENST00000233957.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL18R1 | ENST00000233957.7 | c.753C>A | p.Phe251Leu | missense_variant | 7/11 | 5 | NM_003855.5 | P1 | |
IL18R1 | ENST00000409599.5 | c.753C>A | p.Phe251Leu | missense_variant | 8/12 | 5 | P1 | ||
IL18R1 | ENST00000410040.5 | c.753C>A | p.Phe251Leu | missense_variant | 7/11 | 2 | |||
IL18R1 | ENST00000677287.1 | c.*297C>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/11 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455106Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724216
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at