rs598366

Variant names:

• chr16-57361130-G-A
• rs598366
• NM_002990.5:c.197+570G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000219235.5(CCL22):​c.197+570G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.347 in 151,720 control chromosomes in the GnomAD database, including 11,330 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 0.35 (11330 hom., cov: 29)
• Consequence: CCL22 ENST00000219235.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.23
• Publications: 2 publications found

Genes affected

CCL22 (HGNC:10621): (C-C motif chemokine ligand 22) This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.478 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000219235.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCL22	NM_002990.5	MANE Select	c.197+570G>A		intron	N/A	NP_002981.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCL22	ENST00000219235.5	TSL:1 MANE Select	c.197+570G>A		intron	N/A	ENSP00000219235.4

Frequencies

GnomAD3 genomes AF: 0.347 AC: 52672 AN: 151602 Hom.: 11319 Cov.: 29

Gnomad AFR AF: 0.0831

Gnomad AMI AF: 0.394

Gnomad AMR AF: 0.418

Gnomad ASJ AF: 0.471

Gnomad EAS AF: 0.494

Gnomad SAS AF: 0.340

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.329

Gnomad NFE AF: 0.445

Gnomad OTH AF: 0.386

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

GnomAD4 genome AF: 0.347 AC: 52692 AN: 151720 Hom.: 11330 Cov.: 29 AF XY: 0.352 AC XY: 26061 AN XY: 74122

African (AFR) AF: 0.0828 AC: 3428 AN: 41396

American (AMR) AF: 0.419 AC: 6376 AN: 15220

Ashkenazi Jewish (ASJ) AF: 0.471 AC: 1636 AN: 3472

East Asian (EAS) AF: 0.494 AC: 2536 AN: 5130

South Asian (SAS) AF: 0.342 AC: 1642 AN: 4800

European-Finnish (FIN) AF: 0.530 AC: 5558 AN: 10494

Middle Eastern (MID) AF: 0.344 AC: 101 AN: 294

European-Non Finnish (NFE) AF: 0.445 AC: 30242 AN: 67898

Other (OTH) AF: 0.387 AC: 815 AN: 2108

Alfa AF: 0.415 Hom.: 1829

Bravo AF: 0.331

Asia WGS AF: 0.363 AC: 1259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.20
DANN	Benign	0.77
PhyloP100		-2.2
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs598366; hg19: chr16-57395042;