rs4979326

chr9-114018185-G-Achr9-114018185-G-Cchr9-114018185-G-T

Variant summary

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

The NM_001318042.2(ZNF618):c.844+1401G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.289 in 152,144 control chromosomes in the GnomAD database, including 7,843 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 0.29 (7843 hom., cov: 33)
• Consequence: ZNF618 NM_001318042.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.215

Genes affected

ZNF618 (HGNC:29416): (zinc finger protein 618) Enables identical protein binding activity and transcription coregulator binding activity. Involved in positive regulation of chromatin binding activity. Located in chromatin. Part of pericentric heterochromatin. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.584 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ZNF618	NM_001318042.2	c.844+1401G>A		intron_variant		ENST00000374126.10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ZNF618	ENST00000374126.10	c.844+1401G>A		intron_variant		1	NM_001318042.2	P4

Frequencies

GnomAD3 genomes AF: 0.289 AC: 43990 AN: 152026 Hom.: 7848 Cov.: 33

Gnomad AFR AF: 0.103

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.296

Gnomad ASJ AF: 0.228

Gnomad EAS AF: 0.603

Gnomad SAS AF: 0.320

Gnomad FIN AF: 0.510

Gnomad MID AF: 0.137

Gnomad NFE AF: 0.346

Gnomad OTH AF: 0.252

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

GnomAD4 genome AF: 0.289 AC: 43986 AN: 152144 Hom.: 7843 Cov.: 33 AF XY: 0.296 AC XY: 22051 AN XY: 74372

Gnomad4 AFR AF: 0.103

Gnomad4 AMR AF: 0.296

Gnomad4 ASJ AF: 0.228

Gnomad4 EAS AF: 0.602

Gnomad4 SAS AF: 0.320

Gnomad4 FIN AF: 0.510

Gnomad4 NFE AF: 0.346

Gnomad4 OTH AF: 0.250

Alfa AF: 0.316 Hom.: 14103

Bravo AF: 0.265

Asia WGS AF: 0.400 AC: 1392 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	2.6
Dann	Benign	0.46

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: rs4979326; hg19: chr9-116780465;