rs553669430
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_022168.4(IFIH1):c.1762_1764del(p.Lys588del) variant causes a inframe deletion, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,786 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 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_022168.4 inframe_deletion, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFIH1 | NM_022168.4 | c.1762_1764del | p.Lys588del | inframe_deletion, splice_region_variant | 9/16 | ENST00000649979.2 | |
IFIH1 | XM_047445407.1 | c.1045_1047del | p.Lys349del | inframe_deletion, splice_region_variant | 8/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIH1 | ENST00000649979.2 | c.1762_1764del | p.Lys588del | inframe_deletion, splice_region_variant | 9/16 | NM_022168.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000427 AC: 1AN: 234356Hom.: 0 AF XY: 0.00000787 AC XY: 1AN XY: 127092
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447786Hom.: 0 AF XY: 0.00000139 AC XY: 1AN XY: 720078
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at