Is CDK4 c.*751C>T pathogenic?

CDK4 c.751C>T is classified Benign in CDK4 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). Rare (popmax 0.628%, eas); Associated with melanoma, cutaneous malignant, susceptibility to, 3.

What condition is associated with CDK4 c.*751C>T?

CDK4 c.*751C>T is associated with melanoma, cutaneous malignant, susceptibility to, 3 (ClinVar).

How common is CDK4 c.*751C>T in the general population?

CDK4 c.*751C>T is rare (popmax 0.628%, eas) (gnomAD).

CDK4 c.*751C>T

rs192347082 · VCV882172

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.628%, eas)

Conditions

melanoma, cutaneous malignant, susceptibility to, 3

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.21	GERP -0.42
Non-coding constraint	Z 1.25	1 kb window · o/e 0.91 · regional · uncalibrated
Overall
CADD	1.581	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.628% East Asian · 42/6,686 alleles

Filtering AF 0.478% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.425%

Overall 0.0346% 56/161,734 alleles · rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.628%	159
Remaining individualsnot grpmax-eligible	0.0362%	2,764
Admixed American	0.025%	3,995
South Asian	0.0191%	5,226
European (non-Finnish)	0.00806%	12,406
African / African-American	0.00486%	20,582

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CDK4
Coding: c.*751C>T
MANE Select: NM_005981 · reported on NM_000075
dbSNP: rs192347082
Type: single nucleotide variant
Location: chr12:57747774 (GRCh38)

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

Disease context

melanoma, cutaneous malignant, susceptibility to, 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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-c-star-751c-t (accessed [today's date]).

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