chr11-72000347-T-A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001039660.2(IL18BP):c.29-4T>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000502 in 1,613,420 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001039660.2 splice_region, intron
Scores
Clinical Significance
Conservation
Publications
- hepatitis, fulminant viral, susceptibility toInheritance: Unknown Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL18BP | NM_001039660.2 | c.29-4T>A | splice_region_variant, intron_variant | Intron 2 of 5 | ENST00000393703.9 | NP_001034749.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152184Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000363 AC: 9AN: 248110 AF XY: 0.0000223 show subpopulations
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461118Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 726924 show subpopulations
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74462 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at