Is CDK4 p.Gly152fs (c.455del) pathogenic?

CDK4 p.Gly152fs (c.455del) is classified Uncertain significance in CDK4 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-16). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with CDK4 p.Gly152fs (c.455del)?

CDK4 p.Gly152fs (c.455del) is associated with hereditary neoplastic syndrome (ClinVar).

How common is CDK4 p.Gly152fs (c.455del) in the general population?

CDK4 p.Gly152fs (c.455del) is absent from gnomAD (gnomAD).

CDK4 p.Gly152fs

c.455del · rs2140386483 · VCV2566769

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 4 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.7	GERP -3.7, phastCons 0.011

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CDK4
Protein: p.Gly152fs
Coding: c.455del
MANE Select: NM_000075
dbSNP: rs2140386483
Type: Deletion
Location: chr12:57750990 (GRCh38)
Gene constraint: LOEUF 0.61 · pLI 0.57 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 87.56 · 15 PDB
Residue 152: the protein kinase domain; a turn

Full CDK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CDK4 p.Ala58_Arg62del Uncertain significance ★★ same condition
CDK4 p.Glu184fs Uncertain significance ★★ same condition
CDK4 p.Phe159fs Uncertain significance ★★ same condition
CDK4 p.Ala289fs Uncertain significance ★ same condition
CDK4 p.Arg252fs Uncertain significance ★ same condition
CDK4 p.Asp99fs Uncertain significance ★ same condition
CDK4 p.Leu290fs Uncertain significance ★ same condition
CDK4 p.Phe278fs Uncertain significance ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk4-p-gly152fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown