chr17-39766006-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BA1
The NM_012481.5(IKZF3):c.1314C>T(p.Ser438Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.442 in 1,613,964 control chromosomes in the GnomAD database, including 162,867 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_012481.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.363 AC: 55207AN: 152038Hom.: 11441 Cov.: 32
GnomAD3 exomes AF: 0.406 AC: 101971AN: 251380Hom.: 22028 AF XY: 0.413 AC XY: 56143AN XY: 135858
GnomAD4 exome AF: 0.450 AC: 657520AN: 1461808Hom.: 151423 Cov.: 54 AF XY: 0.448 AC XY: 325716AN XY: 727202
GnomAD4 genome AF: 0.363 AC: 55219AN: 152156Hom.: 11444 Cov.: 32 AF XY: 0.366 AC XY: 27244AN XY: 74392
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 62% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at