rs500766

Variant names:

• chr10-6508628-C-T
• rs500766
• NM_006257.5:c.319-1132G>A

Variant summary

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

The NM_006257.5(PRKCQ):​c.319-1132G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 152,200 control chromosomes in the GnomAD database, including 7,136 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 0.30 (7136 hom., cov: 33)
• Consequence: PRKCQ NM_006257.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.254
• Publications: 13 publications found

Genes affected

PRKCQ (HGNC:9410): (protein kinase C theta) Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]

ENSG00000302067 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.372 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_006257.5. 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
	PRKCQ	NM_006257.5	MANE Select	c.319-1132G>A		intron	N/A	NP_006248.1	Q04759-1
	PRKCQ	NM_001323265.1		c.319-1132G>A		intron	N/A	NP_001310194.1	Q04759-1
	PRKCQ	NM_001282644.2		c.211-1132G>A		intron	N/A	NP_001269573.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PRKCQ	ENST00000263125.10	TSL:1 MANE Select	c.319-1132G>A		intron	N/A	ENSP00000263125.5	Q04759-1
	PRKCQ	ENST00000915286.1		c.319-1132G>A		intron	N/A	ENSP00000585345.1
	PRKCQ	ENST00000866196.1		c.319-1132G>A		intron	N/A	ENSP00000536255.1

Frequencies

GnomAD3 genomes AF: 0.298 AC: 45265 AN: 152082 Hom.: 7125 Cov.: 33

Gnomad AFR AF: 0.377

Gnomad AMI AF: 0.199

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.331

Gnomad EAS AF: 0.0942

Gnomad SAS AF: 0.276

Gnomad FIN AF: 0.322

Gnomad MID AF: 0.348

Gnomad NFE AF: 0.273

Gnomad OTH AF: 0.298

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

GnomAD4 genome AF: 0.298 AC: 45318 AN: 152200 Hom.: 7136 Cov.: 33 AF XY: 0.297 AC XY: 22134 AN XY: 74410

African (AFR) AF: 0.377 AC: 15649 AN: 41528

American (AMR) AF: 0.248 AC: 3798 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.331 AC: 1150 AN: 3470

East Asian (EAS) AF: 0.0943 AC: 489 AN: 5188

South Asian (SAS) AF: 0.276 AC: 1335 AN: 4832

European-Finnish (FIN) AF: 0.322 AC: 3411 AN: 10578

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.273 AC: 18571 AN: 67994

Other (OTH) AF: 0.297 AC: 629 AN: 2116

Alfa AF: 0.282 Hom.: 19145

Bravo AF: 0.293

Asia WGS AF: 0.214 AC: 747 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.84
DANN	Benign	0.51
PhyloP100		-0.25
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: rs500766; hg19: chr10-6550590;