16-85920232-T-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002163.4(IRF8):c.1104+8T>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002163.4 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRF8 | NM_002163.4 | c.1104+8T>A | splice_region_variant, intron_variant | Intron 8 of 8 | ENST00000268638.10 | NP_002154.1 | ||
IRF8 | NM_001363907.1 | c.1134+8T>A | splice_region_variant, intron_variant | Intron 8 of 8 | NP_001350836.1 | |||
IRF8 | NM_001363908.1 | c.492+8T>A | splice_region_variant, intron_variant | Intron 6 of 6 | NP_001350837.1 | |||
IRF8 | XM_047434052.1 | c.1134+8T>A | splice_region_variant, intron_variant | Intron 9 of 9 | XP_047290008.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 21
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at