Is CCND2 p.Arg285Gly (c.853C>G) pathogenic?

CCND2 p.Arg285Gly (c.853C>G) is classified Uncertain significance in CCND2 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-06-01). AlphaMissense: ambiguous (0.4777); Absent from gnomAD v4.1.

How common is CCND2 p.Arg285Gly (c.853C>G) in the general population?

CCND2 p.Arg285Gly (c.853C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CCND2 p.Arg285Gly (c.853C>G)?

AlphaMissense predicts ambiguous (score 0.4777) — an in-silico prediction, not a clinical call.

CCND2 p.Arg285Gly

c.853C>G · rs1199912313 · VCV806776

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4777 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.4777	ambiguous
REVEL	0.181	moderately benign-leaning
SaProt	LLR -5.82	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP -0.14, phastCons 1
Regional constraint	o/e 1.12	unconstrained · MANE · 108 bp · p 0.37 · regional, not allelic
Overall
CADD	24.2	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CCND2
Protein: p.Arg285Gly
Coding: c.853C>G
MANE Select: NM_001759
dbSNP: rs1199912313
Type: single nucleotide variant
Location: chr12:4299992 (GRCh38)
Gene constraint: LOEUF 0.385 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 87.98 · 1 PDB
Residue 285: the 'disordered' region

Full CCND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CCND2 p.Arg285Gln Uncertain significance ★ ⚠ same residue
CCND2 p.Arg285= Likely benign same residue
CCND2 p.Arg285_Asp286insValArg Uncertain significance ★ same residue
CCND2 p.Gln277Ter Pathogenic/Likely pathogenic ★★ same type
CCND2 p.Pro281Ala Pathogenic ★★ same type
CCND2 p.Pro281Ser Pathogenic/Likely pathogenic ★★ same type
CCND2 p.Ser271Ter Likely pathogenic ★★ same type
CCND2 p.Thr280Ala Pathogenic ★★ same type

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/ccnd2-p-arg285gly (accessed [today's date]).

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