2-113118007-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_173841.3(IL1RN):c.-12G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.248 in 1,519,538 control chromosomes in the GnomAD database, including 50,468 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_173841.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL1RN | NM_173841.3 | c.-12G>C | 5_prime_UTR_variant | Exon 1 of 6 | NP_776213.1 | |||
IL1RN | NM_000577.5 | c.-12G>C | 5_prime_UTR_variant | Exon 1 of 5 | NP_000568.1 | |||
IL1RN | NM_001318914.2 | c.-294G>C | 5_prime_UTR_variant | Exon 1 of 7 | NP_001305843.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL1RN | ENST00000259206 | c.-12G>C | 5_prime_UTR_variant | Exon 1 of 6 | 1 | ENSP00000259206.5 | ||||
IL1RN | ENST00000354115 | c.-12G>C | 5_prime_UTR_variant | Exon 1 of 5 | 1 | ENSP00000329072.3 | ||||
IL1RN | ENST00000361779 | c.-231G>C | 5_prime_UTR_variant | Exon 1 of 6 | 1 | ENSP00000354816.3 |
Frequencies
GnomAD3 genomes AF: 0.209 AC: 31816AN: 152078Hom.: 4075 Cov.: 33
GnomAD3 exomes AF: 0.253 AC: 63662AN: 251438Hom.: 9031 AF XY: 0.256 AC XY: 34804AN XY: 135902
GnomAD4 exome AF: 0.253 AC: 345495AN: 1367340Hom.: 46386 Cov.: 22 AF XY: 0.254 AC XY: 173843AN XY: 685680
GnomAD4 genome AF: 0.209 AC: 31833AN: 152198Hom.: 4082 Cov.: 33 AF XY: 0.212 AC XY: 15787AN XY: 74408
ClinVar
Submissions by phenotype
not specified Benign:4
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
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This variant is classified as Benign based on local population frequency. This variant was detected in 49% of patients studied by a panel of primary immunodeficiencies. Number of patients: 47. Only high quality variants are reported. -
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not provided Benign:2
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Sterile multifocal osteomyelitis with periostitis and pustulosis Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at