Is CDKN2A p.Gly16Val (c.47G>T) pathogenic?

CDKN2A p.Gly16Val (c.47G>T) is classified Uncertain significance in CDKN2A (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-12). Absent from gnomAD v4.1; Associated with familial melanoma.

What condition is associated with CDKN2A p.Gly16Val (c.47G>T)?

CDKN2A p.Gly16Val (c.47G>T) is associated with familial melanoma (ClinVar).

How common is CDKN2A p.Gly16Val (c.47G>T) in the general population?

CDKN2A p.Gly16Val (c.47G>T) is absent from gnomAD v4.1 (gnomAD).

How is Familial melanoma inherited?

Typically Autosomal dominant, Multigenic/multifactorial (Orphanet). A genetic counselor can assess individual risk for a family.

CDKN2A p.Gly16Val

c.47G>T · rs1444669684 · VCV566468

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,603,850)

Conditions

familial melanoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.387	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.3	GERP 0.66, phastCons 1
Overall
CADD	22.2	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,603,850). 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: CDKN2A
Protein: p.Gly16Val
Coding: c.47G>T
MANE Select: NM_000077 · reported on NM_058195
dbSNP: rs1444669684
Type: single nucleotide variant
Location: chr9:21994285 (GRCh38)
Gene constraint: LOEUF 0.791 · pLI 0.62 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 77.02 · 5 PDB
Residue 16: an α-helix; a UniProt-annotated variant site (in a biliary tract tumor and a familial melanoma); the 'interaction with cdk5rap3 and mdm2' region

Full CDKN2A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

familial melanoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial melanoma (Orphanet):

Inheritance: Autosomal dominant, Multigenic/multifactorial
Onset: Adult
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

CDKN2A p.Leu16Arg Pathogenic/Likely pathogenic ★★ same residue
CDKN2A p.Leu16Pro Pathogenic/Likely pathogenic ★★ same residue
CDKN2A p.Gly16Arg Uncertain significance ★★ same residue
CDKN2A p.Gly16Asp Uncertain significance ★★ same residue
CDKN2A p.Gly16Ser Uncertain significance ★★ same residue
CDKN2A p.Leu16Gln Uncertain significance ★★ ⚠ same residue
CDKN2A p.Gly16= Conflicting classifications of pathogenicity ★ same residue
CDKN2A p.Leu16fs Pathogenic ★★ same residue

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/cdkn2a-p-gly16val (accessed [today's date]).

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