10-122993890-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001372123.1(IKZF5):c.1150G>A(p.Gly384Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001372123.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IKZF5 | NM_001372123.1 | c.1150G>A | p.Gly384Arg | missense_variant | Exon 5 of 5 | ENST00000368886.10 | NP_001359052.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IKZF5 | ENST00000368886.10 | c.1150G>A | p.Gly384Arg | missense_variant | Exon 5 of 5 | 1 | NM_001372123.1 | ENSP00000357881.5 | ||
IKZF5 | ENST00000617859.4 | c.1150G>A | p.Gly384Arg | missense_variant | Exon 5 of 5 | 1 | ENSP00000478056.1 | |||
PSTK | ENST00000496079.1 | n.586-753C>T | intron_variant | Intron 4 of 4 | 3 | |||||
PSTK | ENST00000497219.5 | n.1816-3229C>T | intron_variant | Intron 6 of 6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.