7-14382290-A-T

Position:

• chr7-14382290-A-T

Variant summary

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

The NM_001350709.2(DGKB):​c.1836-36899T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.665 in 148,532 control chromosomes in the GnomAD database, including 33,452 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 0.67 (33452 hom., cov: 30)
• Consequence: DGKB NM_001350709.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39

Genes affected

DGKB (HGNC:2850): (diacylglycerol kinase beta) Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

DGKB (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.745 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DGKB	NM_001350709.2	c.1836-36899T>A		intron_variant		ENST00000402815.6	NP_001337638.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DGKB	ENST00000402815.6	c.1836-36899T>A		intron_variant		5	NM_001350709.2	ENSP00000384909.1

Frequencies

GnomAD3 genomes AF: 0.665 AC: 98768 AN: 148444 Hom.: 33451 Cov.: 30

Gnomad AFR AF: 0.491

Gnomad AMI AF: 0.824

Gnomad AMR AF: 0.645

Gnomad ASJ AF: 0.680

Gnomad EAS AF: 0.716

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.749

Gnomad MID AF: 0.608

Gnomad NFE AF: 0.751

Gnomad OTH AF: 0.670

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

GnomAD4 genome AF: 0.665 AC: 98805 AN: 148532 Hom.: 33452 Cov.: 30 AF XY: 0.664 AC XY: 48114 AN XY: 72442

Gnomad4 AFR AF: 0.491

Gnomad4 AMR AF: 0.645

Gnomad4 ASJ AF: 0.680

Gnomad4 EAS AF: 0.716

Gnomad4 SAS AF: 0.679

Gnomad4 FIN AF: 0.749

Gnomad4 NFE AF: 0.751

Gnomad4 OTH AF: 0.670

Alfa AF: 0.631 Hom.: 2228

Bravo AF: 0.644

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.2
DANN	Benign	0.31

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: rs12699612; hg19: chr7-14421915;