rs11770192

Positions:

• chr7-23458739-C-T

Variant summary

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

The NM_006547.3(IGF2BP3):​c.236+9743G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.34 in 152,112 control chromosomes in the GnomAD database, including 9,165 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 0.34 (9165 hom., cov: 32)
• Consequence: IGF2BP3 NM_006547.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.664

Genes affected

IGF2BP3 (HGNC:28868): (insulin like growth factor 2 mRNA binding protein 3) The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.368 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IGF2BP3	NM_006547.3	c.236+9743G>A		intron_variant		ENST00000258729.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IGF2BP3	ENST00000258729.8	c.236+9743G>A		intron_variant		1	NM_006547.3	P1

Frequencies

GnomAD3 genomes AF: 0.340 AC: 51683 AN: 151994 Hom.: 9164 Cov.: 32

Gnomad AFR AF: 0.372

Gnomad AMI AF: 0.135

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.314

Gnomad EAS AF: 0.0512

Gnomad SAS AF: 0.331

Gnomad FIN AF: 0.247

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.372

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.340 AC: 51707 AN: 152112 Hom.: 9165 Cov.: 32 AF XY: 0.330 AC XY: 24581 AN XY: 74378

Gnomad4 AFR AF: 0.372

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.314

Gnomad4 EAS AF: 0.0513

Gnomad4 SAS AF: 0.331

Gnomad4 FIN AF: 0.247

Gnomad4 NFE AF: 0.372

Gnomad4 OTH AF: 0.360

Alfa AF: 0.359 Hom.: 19982

Bravo AF: 0.340

Asia WGS AF: 0.199 AC: 695 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.1
DANN	Benign	0.73

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: rs11770192; hg19: chr7-23498358;