rs10953026

Positions:

• chr7-90920876-G-A
• chr7-90920876-G-C
• chr7-90920876-G-T

Variant summary

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

The NM_001287135.2(CDK14):​c.826+3152G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.629 in 152,002 control chromosomes in the GnomAD database, including 30,333 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 0.63 (30333 hom., cov: 32)
• Consequence: CDK14 NM_001287135.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.583

Genes affected

CDK14 (HGNC:8883): (cyclin dependent kinase 14) Enables cyclin binding activity and cyclin-dependent protein serine/threonine kinase activity. Involved in G2/M transition of mitotic cell cycle and regulation of canonical Wnt signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Part of cytoplasmic cyclin-dependent protein kinase holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.683 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CDK14	NM_001287135.2	c.826+3152G>A		intron_variant		ENST00000380050.8	NP_001274064.1
CDK14	NM_001287136.1	c.688+3152G>A		intron_variant			NP_001274065.1
CDK14	NM_001287137.1	c.439+3152G>A		intron_variant			NP_001274066.1
CDK14	NM_012395.3	c.772+3152G>A		intron_variant			NP_036527.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CDK14	ENST00000380050.8	c.826+3152G>A		intron_variant		1	NM_001287135.2	ENSP00000369390	P4

Frequencies

GnomAD3 genomes AF: 0.629 AC: 95488 AN: 151884 Hom.: 30324 Cov.: 32

Gnomad AFR AF: 0.613

Gnomad AMI AF: 0.462

Gnomad AMR AF: 0.596

Gnomad ASJ AF: 0.625

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.629

Gnomad FIN AF: 0.800

Gnomad MID AF: 0.557

Gnomad NFE AF: 0.616

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.629 AC: 95544 AN: 152002 Hom.: 30333 Cov.: 32 AF XY: 0.637 AC XY: 47301 AN XY: 74288

Gnomad4 AFR AF: 0.613

Gnomad4 AMR AF: 0.596

Gnomad4 ASJ AF: 0.625

Gnomad4 EAS AF: 0.702

Gnomad4 SAS AF: 0.628

Gnomad4 FIN AF: 0.800

Gnomad4 NFE AF: 0.616

Gnomad4 OTH AF: 0.637

Alfa AF: 0.615 Hom.: 52203

Bravo AF: 0.611

Asia WGS AF: 0.660 AC: 2290 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.41
DANN	Benign	0.16

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: rs10953026; hg19: chr7-90550191;