6-28169791-G-A

Variant names:

• chr6-28169791-G-A
• rs9380062
• ENST00000440790.6:c.*576G>A

Variant summary

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

The ENST00000440790.6(ZKSCAN8P1):​c.*576G>A variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.229 in 151,972 control chromosomes in the GnomAD database, including 4,142 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 0.23 (4142 hom., cov: 32)
• Consequence: ZKSCAN8P1 ENST00000440790.6 downstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.552
• Publications: 10 publications found

Genes affected

ZKSCAN8P1 (HGNC:18777): (ZKSCAN8 pseudogene 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.279 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000440790.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZKSCAN8P1	NR_103448.1		n.*196G>A		downstream_gene	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZKSCAN8P1	ENST00000440790.6	TSL:5	c.*576G>A		downstream_gene	N/A	ENSP00000509393.1	A0A8I5KTY6
	ZKSCAN8P1	ENST00000562227.2	TSL:3	c.*576G>A		downstream_gene	N/A	ENSP00000510811.1	A0A8I5KTY6

Frequencies

GnomAD3 genomes AF: 0.229 AC: 34820 AN: 151854 Hom.: 4135 Cov.: 32

Gnomad AFR AF: 0.284

Gnomad AMI AF: 0.291

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.168

Gnomad EAS AF: 0.175

Gnomad SAS AF: 0.140

Gnomad FIN AF: 0.183

Gnomad MID AF: 0.130

Gnomad NFE AF: 0.214

Gnomad OTH AF: 0.222

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

GnomAD4 genome AF: 0.229 AC: 34856 AN: 151972 Hom.: 4142 Cov.: 32 AF XY: 0.224 AC XY: 16622 AN XY: 74288

African (AFR) AF: 0.283 AC: 11733 AN: 41422

American (AMR) AF: 0.241 AC: 3685 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.168 AC: 584 AN: 3466

East Asian (EAS) AF: 0.175 AC: 904 AN: 5170

South Asian (SAS) AF: 0.142 AC: 684 AN: 4816

European-Finnish (FIN) AF: 0.183 AC: 1934 AN: 10544

Middle Eastern (MID) AF: 0.136 AC: 40 AN: 294

European-Non Finnish (NFE) AF: 0.214 AC: 14566 AN: 67982

Other (OTH) AF: 0.220 AC: 462 AN: 2104

Alfa AF: 0.222 Hom.: 1760

Bravo AF: 0.240

Asia WGS AF: 0.154 AC: 537 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.58
DANN	Benign	0.80
PhyloP100		-0.55

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs9380062;

hg19: chr6-28137569;