7-137447847-C-G

Variant names:

• chr7-137447847-C-G
• rs7804771
• NM_001321708.2:c.2736-3745G>C

Variant summary

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

The NM_001321708.2(DGKI):​c.2736-3745G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.84 in 152,186 control chromosomes in the GnomAD database, including 54,164 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 0.84 (54164 hom., cov: 32)
• Consequence: DGKI NM_001321708.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.399
• Publications: 4 publications found

Genes affected

DGKI (HGNC:2855): (diacylglycerol kinase iota) This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [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=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.9 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DGKI	NM_001321708.2	c.2736-3745G>C		intron_variant	Intron 27 of 32	ENST00000614521.2	NP_001308637.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DGKI	ENST00000614521.2	c.2736-3745G>C		intron_variant	Intron 27 of 32	5	NM_001321708.2	ENSP00000479053.2

Frequencies

GnomAD3 genomes AF: 0.841 AC: 127818 AN: 152070 Hom.: 54159 Cov.: 32

Gnomad AFR AF: 0.736

Gnomad AMI AF: 0.880

Gnomad AMR AF: 0.857

Gnomad ASJ AF: 0.933

Gnomad EAS AF: 0.690

Gnomad SAS AF: 0.922

Gnomad FIN AF: 0.875

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.895

Gnomad OTH AF: 0.854

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

GnomAD4 genome AF: 0.840 AC: 127873 AN: 152186 Hom.: 54164 Cov.: 32 AF XY: 0.840 AC XY: 62519 AN XY: 74410

African (AFR) AF: 0.735 AC: 30510 AN: 41494

American (AMR) AF: 0.856 AC: 13095 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.933 AC: 3241 AN: 3472

East Asian (EAS) AF: 0.690 AC: 3561 AN: 5160

South Asian (SAS) AF: 0.922 AC: 4448 AN: 4822

European-Finnish (FIN) AF: 0.875 AC: 9282 AN: 10602

Middle Eastern (MID) AF: 0.915 AC: 269 AN: 294

European-Non Finnish (NFE) AF: 0.895 AC: 60856 AN: 68018

Other (OTH) AF: 0.856 AC: 1810 AN: 2114

Alfa AF: 0.865 Hom.: 7092

Bravo AF: 0.831

Asia WGS AF: 0.810 AC: 2817 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.9
DANN	Benign	0.79
PhyloP100		-0.40
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: rs7804771; hg19: chr7-137132593;