rs144257869
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_012481.5(IKZF3):c.1078G>A(p.Glu360Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000604 in 1,613,956 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012481.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000671 AC: 102AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000402 AC: 101AN: 251404Hom.: 0 AF XY: 0.000449 AC XY: 61AN XY: 135886
GnomAD4 exome AF: 0.000597 AC: 873AN: 1461862Hom.: 1 Cov.: 34 AF XY: 0.000582 AC XY: 423AN XY: 727232
GnomAD4 genome AF: 0.000671 AC: 102AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.000713 AC XY: 53AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1078G>A (p.E360K) alteration is located in exon 8 (coding exon 8) of the IKZF3 gene. This alteration results from a G to A substitution at nucleotide position 1078, causing the glutamic acid (E) at amino acid position 360 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at