NM_001287135.2:c.123+7022A>G

Variant names:

• chr7-90611271-A-G
• rs1859023
• NM_001287135.2:c.123+7022A>G

Variant summary

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

The NM_001287135.2(CDK14):​c.123+7022A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.648 in 152,060 control chromosomes in the GnomAD database, including 32,038 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 0.65 (32038 hom., cov: 32)
• Consequence: CDK14 NM_001287135.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.730
• Publications: 8 publications found

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

Our verdict: Benign. The variant received -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 = 0.688 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CDK14	NM_001287135.2	c.123+7022A>G		intron_variant	Intron 2 of 14	ENST00000380050.8	NP_001274064.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CDK14	ENST00000380050.8	c.123+7022A>G		intron_variant	Intron 2 of 14	1	NM_001287135.2	ENSP00000369390.3

Frequencies

GnomAD3 genomes AF: 0.648 AC: 98397 AN: 151942 Hom.: 31991 Cov.: 32

Gnomad AFR AF: 0.671

Gnomad AMI AF: 0.715

Gnomad AMR AF: 0.697

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.706

Gnomad SAS AF: 0.688

Gnomad FIN AF: 0.632

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.614

Gnomad OTH AF: 0.663

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

GnomAD4 genome AF: 0.648 AC: 98501 AN: 152060 Hom.: 32038 Cov.: 32 AF XY: 0.652 AC XY: 48468 AN XY: 74332

African (AFR) AF: 0.672 AC: 27870 AN: 41494

American (AMR) AF: 0.698 AC: 10665 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.671 AC: 2325 AN: 3464

East Asian (EAS) AF: 0.707 AC: 3650 AN: 5162

South Asian (SAS) AF: 0.687 AC: 3313 AN: 4824

European-Finnish (FIN) AF: 0.632 AC: 6671 AN: 10556

Middle Eastern (MID) AF: 0.748 AC: 220 AN: 294

European-Non Finnish (NFE) AF: 0.614 AC: 41730 AN: 67958

Other (OTH) AF: 0.665 AC: 1405 AN: 2114

Alfa AF: 0.633 Hom.: 16104

Bravo AF: 0.653

Asia WGS AF: 0.719 AC: 2501 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.1
DANN	Benign	0.54
PhyloP100		-0.73
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: rs1859023; hg19: chr7-90240585;