rs7635103

Variant names:

• chr3-186115970-C-A
• rs7635103
• ENST00000447054.5:n.132-10028G>T

Your query was ambiguous. Multiple possible variants found:

• chr3-186115970-C-A
• chr3-186115970-C-G
• chr3-186115970-C-T

Variant summary

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

The ENST00000447054.5(DGKG):​n.132-10028G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.658 in 151,956 control chromosomes in the GnomAD database, including 34,096 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 0.66 (34096 hom., cov: 31)
• Consequence: DGKG ENST00000447054.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0180
• Publications: 13 publications found

Genes affected

DGKG (HGNC:2853): (diacylglycerol kinase gamma) This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.754 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000447054.5. 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
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DGKG	ENST00000447054.5	TSL:3	n.132-10028G>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.658 AC: 99953 AN: 151838 Hom.: 34098 Cov.: 31

Gnomad AFR AF: 0.499

Gnomad AMI AF: 0.841

Gnomad AMR AF: 0.629

Gnomad ASJ AF: 0.766

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.646

Gnomad FIN AF: 0.741

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.760

Gnomad OTH AF: 0.678

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

GnomAD4 genome AF: 0.658 AC: 99968 AN: 151956 Hom.: 34096 Cov.: 31 AF XY: 0.655 AC XY: 48687 AN XY: 74278

African (AFR) AF: 0.499 AC: 20644 AN: 41412

American (AMR) AF: 0.628 AC: 9601 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.766 AC: 2655 AN: 3468

East Asian (EAS) AF: 0.408 AC: 2099 AN: 5146

South Asian (SAS) AF: 0.644 AC: 3103 AN: 4816

European-Finnish (FIN) AF: 0.741 AC: 7823 AN: 10554

Middle Eastern (MID) AF: 0.728 AC: 214 AN: 294

European-Non Finnish (NFE) AF: 0.760 AC: 51634 AN: 67966

Other (OTH) AF: 0.677 AC: 1428 AN: 2110

Alfa AF: 0.719 Hom.: 130531

Bravo AF: 0.640

Asia WGS AF: 0.542 AC: 1888 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
CADD	Benign	8.8
DANN	Benign	0.81
PhyloP100		0.018

Splicing

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

Other links and lift over

dbSNP: rs7635103; hg19: chr3-185833759;