rs2790232

Positions:

• chr10-58225910-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_152230.5(IPMK):​c.373+1133G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0829 in 152,024 control chromosomes in the GnomAD database, including 1,326 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.083 (1326 hom., cov: 32)
• Consequence: IPMK NM_152230.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.441

Genes affected

IPMK (HGNC:20739): (inositol polyphosphate multikinase) This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.243 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IPMK	NM_152230.5	c.373+1133G>A		intron_variant		ENST00000373935.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IPMK	ENST00000373935.4	c.373+1133G>A		intron_variant		1	NM_152230.5	P1

Frequencies

GnomAD3 genomes AF: 0.0827 AC: 12566 AN: 151908 Hom.: 1320 Cov.: 32

Gnomad AFR AF: 0.247

Gnomad AMI AF: 0.0428

Gnomad AMR AF: 0.0352

Gnomad ASJ AF: 0.0271

Gnomad EAS AF: 0.000579

Gnomad SAS AF: 0.0520

Gnomad FIN AF: 0.00189

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0188

Gnomad OTH AF: 0.0660

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0829 AC: 12599 AN: 152024 Hom.: 1326 Cov.: 32 AF XY: 0.0817 AC XY: 6069 AN XY: 74324

Gnomad4 AFR AF: 0.247

Gnomad4 AMR AF: 0.0351

Gnomad4 ASJ AF: 0.0271

Gnomad4 EAS AF: 0.000580

Gnomad4 SAS AF: 0.0515

Gnomad4 FIN AF: 0.00189

Gnomad4 NFE AF: 0.0188

Gnomad4 OTH AF: 0.0653

Alfa AF: 0.0278 Hom.: 364

Bravo AF: 0.0929

Asia WGS AF: 0.0440 AC: 156 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	5.7
DANN	Benign	0.72

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2790232; hg19: chr10-59985671;