chr16-85918487-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_002163.4(IRF8):c.672C>A(p.Pro224Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000126 in 1,591,264 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002163.4 synonymous
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRF8 | NM_002163.4 | c.672C>A | p.Pro224Pro | synonymous_variant | 7/9 | ENST00000268638.10 | NP_002154.1 | |
IRF8 | NM_001363907.1 | c.702C>A | p.Pro234Pro | synonymous_variant | 7/9 | NP_001350836.1 | ||
IRF8 | NM_001363908.1 | c.60C>A | p.Pro20Pro | synonymous_variant | 5/7 | NP_001350837.1 | ||
IRF8 | XM_047434052.1 | c.702C>A | p.Pro234Pro | synonymous_variant | 8/10 | XP_047290008.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IRF8 | ENST00000268638.10 | c.672C>A | p.Pro224Pro | synonymous_variant | 7/9 | 1 | NM_002163.4 | ENSP00000268638.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000868 AC: 2AN: 230362Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 126510
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1439032Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 714984
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at