NM_014912.5:c.1869+2732G>A

Variant names:

• chr10-92078588-C-T
• rs7084059
• NM_014912.5:c.1869+2732G>A

Variant summary

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

The NM_014912.5(CPEB3):​c.1869+2732G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.337 in 151,860 control chromosomes in the GnomAD database, including 8,777 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 0.34 (8777 hom., cov: 31)
• Consequence: CPEB3 NM_014912.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13
• Publications: 3 publications found

Genes affected

CPEB3 (HGNC:21746): (cytoplasmic polyadenylation element binding protein 3) Enables mRNA 3'-UTR binding activity and translation factor activity, RNA binding. Involved in cellular response to amino acid stimulus; negative regulation of transcription by RNA polymerase II; and positive regulation of mRNA catabolic process. Located in several cellular components, including cytosol; midbody; and nucleoplasm. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Apr 2022]

CPEB3 Gene-Disease associations (from GenCC):

• Tourette syndrome

  Inheritance: Unknown Classification: NO_KNOWN Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.38 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CPEB3	NM_014912.5	c.1869+2732G>A		intron_variant	Intron 9 of 9	ENST00000265997.5	NP_055727.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CPEB3	ENST00000265997.5	c.1869+2732G>A		intron_variant	Intron 9 of 9	1	NM_014912.5	ENSP00000265997.4
CPEB3	ENST00000412050.8	c.1827+2732G>A		intron_variant	Intron 9 of 9	1		ENSP00000398310.2
CPEB3	ENST00000614585.4	c.1869+2732G>A		intron_variant	Intron 9 of 9	5		ENSP00000482128.1

Frequencies

GnomAD3 genomes AF: 0.337 AC: 51091 AN: 151742 Hom.: 8782 Cov.: 31

Gnomad AFR AF: 0.349

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.388

Gnomad ASJ AF: 0.408

Gnomad EAS AF: 0.304

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.264

Gnomad MID AF: 0.338

Gnomad NFE AF: 0.341

Gnomad OTH AF: 0.372

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

GnomAD4 genome AF: 0.337 AC: 51108 AN: 151860 Hom.: 8777 Cov.: 31 AF XY: 0.330 AC XY: 24504 AN XY: 74218

African (AFR) AF: 0.348 AC: 14424 AN: 41390

American (AMR) AF: 0.388 AC: 5911 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.408 AC: 1414 AN: 3468

East Asian (EAS) AF: 0.304 AC: 1565 AN: 5144

South Asian (SAS) AF: 0.133 AC: 641 AN: 4814

European-Finnish (FIN) AF: 0.264 AC: 2787 AN: 10544

Middle Eastern (MID) AF: 0.353 AC: 103 AN: 292

European-Non Finnish (NFE) AF: 0.341 AC: 23154 AN: 67948

Other (OTH) AF: 0.371 AC: 783 AN: 2108

Alfa AF: 0.336 Hom.: 5655

Bravo AF: 0.357

Asia WGS AF: 0.204 AC: 711 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.3
DANN	Benign	0.36
PhyloP100		-1.1
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: rs7084059; hg19: chr10-93838345;