NM_003647.3:c.465-208_465-205dupAAAA

Variant names:

• chr17-56843797-C-CAAAA
• rs368992473
• NM_003647.3:c.465-208_465-205dupAAAA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

The NM_003647.3(DGKE):​c.465-208_465-205dupAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0021 (12 hom., cov: 0)
• Consequence: DGKE NM_003647.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0310

Genes affected

DGKE (HGNC:2852): (diacylglycerol kinase epsilon) Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]

TRIM25 (HGNC:12932): (tripartite motif containing 25) The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein is an RNA binding protein, functions as a ubiquitin E3 ligase and is involved in multiple cellular processes, including regulation of antiviral innate immunity. [provided by RefSeq, Sep 2021]

LOC124904036 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BS1: Variant frequency is greater than expected in population amr. gnomad4 allele frequency = 0.00212 (232/109384) while in subpopulation AMR AF= 0.00381 (37/9702). AF 95% confidence interval is 0.00299. There are 12 homozygotes in gnomad4. There are 115 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 12 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DGKE	NM_003647.3	c.465-208_465-205dupAAAA		intron_variant	Intron 2 of 11	ENST00000284061.8	NP_003638.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DGKE	ENST00000284061.8	c.465-222_465-221insAAAA		intron_variant	Intron 2 of 11	1	NM_003647.3	ENSP00000284061.3

Frequencies

GnomAD3 genomes AF: 0.00213 AC: 233 AN: 109384 Hom.: 12 Cov.: 0

Gnomad AFR AF: 0.00359

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00382

Gnomad ASJ AF: 0.000341

Gnomad EAS AF: 0.00102

Gnomad SAS AF: 0.00220

Gnomad FIN AF: 0.00319

Gnomad MID AF: 0.00485

Gnomad NFE AF: 0.00116

Gnomad OTH AF: 0.00217

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

GnomAD4 genome AF: 0.00212 AC: 232 AN: 109384 Hom.: 12 Cov.: 0 AF XY: 0.00227 AC XY: 115 AN XY: 50766

Gnomad4 AFR AF: 0.00355

Gnomad4 AMR AF: 0.00381

Gnomad4 ASJ AF: 0.000341

Gnomad4 EAS AF: 0.00102

Gnomad4 SAS AF: 0.00222

Gnomad4 FIN AF: 0.00319

Gnomad4 NFE AF: 0.00116

Gnomad4 OTH AF: 0.00216

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs368992473; hg19: chr17-54921158;