rs1997644

Positions:

• chr22-38319217-G-A

Variant summary

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

The NM_001289912.2(TPTEP2-CSNK1E):​c.-12-5048C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.439 in 151,984 control chromosomes in the GnomAD database, including 16,013 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 0.44 (16013 hom., cov: 31)
• Consequence: TPTEP2-CSNK1E NM_001289912.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.284

Genes affected

TPTEP2-CSNK1E (HGNC:53829): (TPTEP2-CSNK1E readthrough) This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.524 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TPTEP2-CSNK1E	NM_001289912.2	c.-12-5048C>T		intron_variant			NP_001276841.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TPTEP2-CSNK1E	ENST00000400206.7	c.-12-5048C>T		intron_variant		2		ENSP00000383067.2

Frequencies

GnomAD3 genomes AF: 0.439 AC: 66698 AN: 151866 Hom.: 16001 Cov.: 31

Gnomad AFR AF: 0.246

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.456

Gnomad ASJ AF: 0.429

Gnomad EAS AF: 0.362

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.637

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.528

Gnomad OTH AF: 0.419

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

GnomAD4 genome AF: 0.439 AC: 66735 AN: 151984 Hom.: 16013 Cov.: 31 AF XY: 0.443 AC XY: 32911 AN XY: 74274

Gnomad4 AFR AF: 0.245

Gnomad4 AMR AF: 0.457

Gnomad4 ASJ AF: 0.429

Gnomad4 EAS AF: 0.362

Gnomad4 SAS AF: 0.415

Gnomad4 FIN AF: 0.637

Gnomad4 NFE AF: 0.528

Gnomad4 OTH AF: 0.419

Alfa AF: 0.504 Hom.: 29783

Bravo AF: 0.418

Asia WGS AF: 0.364 AC: 1267 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	4.8
DANN	Benign	0.67

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1997644; hg19: chr22-38715222;