rs17168564

Variant names:

• chr7-14971199-T-C
• rs17168564
• NM_001350707.2:c.-188+3497A>G

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The NM_001350707.2(DGKB):​c.-188+3497A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.151 in 152,092 control chromosomes in the GnomAD database, including 1,839 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 0.15 (1839 hom., cov: 32)
• Consequence: DGKB NM_001350707.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.93
• Publications: 3 publications found

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]

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.3).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.201 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001350707.2. 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
	DGKB	NM_001350707.2		c.-188+3497A>G		intron	N/A	NP_001337636.1	B5MBY2
	DGKB	NM_001350711.2		c.-188+3497A>G		intron	N/A	NP_001337640.1	B5MCD5
	DGKB	NM_001350717.2		c.-188+3497A>G		intron	N/A	NP_001337646.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DGKB	ENST00000910828.1		c.-292+3497A>G		intron	N/A	ENSP00000580887.1
	DGKB	ENST00000967726.1		c.-188+3497A>G		intron	N/A	ENSP00000637785.1
	DGKB	ENST00000437998.1	TSL:4	c.-188+3497A>G		intron	N/A	ENSP00000405569.1	C9JA18

Frequencies

GnomAD3 genomes AF: 0.151 AC: 22944 AN: 151974 Hom.: 1837 Cov.: 32

Gnomad AFR AF: 0.161

Gnomad AMI AF: 0.211

Gnomad AMR AF: 0.197

Gnomad ASJ AF: 0.0871

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.213

Gnomad FIN AF: 0.0908

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.139

Gnomad OTH AF: 0.154

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

GnomAD4 genome AF: 0.151 AC: 22967 AN: 152092 Hom.: 1839 Cov.: 32 AF XY: 0.150 AC XY: 11163 AN XY: 74356

African (AFR) AF: 0.162 AC: 6701 AN: 41490

American (AMR) AF: 0.197 AC: 3006 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.0871 AC: 302 AN: 3466

East Asian (EAS) AF: 0.189 AC: 973 AN: 5160

South Asian (SAS) AF: 0.212 AC: 1022 AN: 4814

European-Finnish (FIN) AF: 0.0908 AC: 963 AN: 10604

Middle Eastern (MID) AF: 0.0986 AC: 29 AN: 294

European-Non Finnish (NFE) AF: 0.139 AC: 9452 AN: 67978

Other (OTH) AF: 0.155 AC: 327 AN: 2112

Alfa AF: 0.141 Hom.: 3369

Bravo AF: 0.155

Asia WGS AF: 0.209 AC: 729 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.30
CADD	Benign	21
DANN	Benign	0.85
PhyloP100		2.9

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: rs17168564; hg19: chr7-15010824;