2-213013916-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001387220.1(IKZF2):c.731G>T(p.Cys244Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,611,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387220.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IKZF2 | NM_001387220.1 | c.731G>T | p.Cys244Phe | missense_variant | Exon 8 of 9 | ENST00000434687.6 | NP_001374149.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151958Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 250708Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135518
GnomAD4 exome AF: 0.00000959 AC: 14AN: 1459334Hom.: 0 Cov.: 30 AF XY: 0.00000689 AC XY: 5AN XY: 725988
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151958Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.731G>T (p.C244F) alteration is located in exon 7 (coding exon 6) of the IKZF2 gene. This alteration results from a G to T substitution at nucleotide position 731, causing the cysteine (C) at amino acid position 244 to be replaced by a phenylalanine (F). 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