rs11861531

Positions:

• chr16-3066324-T-C

Variant summary

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

The NM_001376923.1(IL32):​c.15+498T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.623 in 152,080 control chromosomes in the GnomAD database, including 30,548 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 0.62 (30548 hom., cov: 32)
• Consequence: IL32 NM_001376923.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.45

Genes affected

IL32 (HGNC:16830): (interleukin 32) This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.748 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
IL32	NM_001376923.1	c.15+498T>C		intron_variant		ENST00000525643.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
IL32	ENST00000525643.7	c.15+498T>C		intron_variant		1	NM_001376923.1	A2

Frequencies

GnomAD3 genomes AF: 0.623 AC: 94656 AN: 151962 Hom.: 30507 Cov.: 32

Gnomad AFR AF: 0.748

Gnomad AMI AF: 0.606

Gnomad AMR AF: 0.704

Gnomad ASJ AF: 0.574

Gnomad EAS AF: 0.768

Gnomad SAS AF: 0.655

Gnomad FIN AF: 0.529

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.533

Gnomad OTH AF: 0.604

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

GnomAD4 genome AF: 0.623 AC: 94753 AN: 152080 Hom.: 30548 Cov.: 32 AF XY: 0.627 AC XY: 46592 AN XY: 74358

Gnomad4 AFR AF: 0.748

Gnomad4 AMR AF: 0.704

Gnomad4 ASJ AF: 0.574

Gnomad4 EAS AF: 0.768

Gnomad4 SAS AF: 0.655

Gnomad4 FIN AF: 0.529

Gnomad4 NFE AF: 0.533

Gnomad4 OTH AF: 0.607

Alfa AF: 0.560 Hom.: 7569

Bravo AF: 0.641

Asia WGS AF: 0.741 AC: 2577 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.3
DANN	Benign	0.59

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: rs11861531; hg19: chr16-3116325; COSMIC: COSV50406197; COSMIC: COSV50406197;