10-58199273-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_152230.5(IPMK):c.595G>A(p.Gly199Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000435 in 1,608,402 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152230.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152000Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1456402Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 724430
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152000Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74224
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.595G>A (p.G199R) alteration is located in exon 5 (coding exon 5) of the IPMK gene. This alteration results from a G to A substitution at nucleotide position 595, causing the glycine (G) at amino acid position 199 to be replaced by an arginine (R). 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