Is CCDC14 p.Val28Phe (c.82G>T) pathogenic?

CCDC14 p.Val28Phe (c.82G>T) is classified Uncertain significance in CCDC14 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-02). Absent from gnomAD v4.1.

How common is CCDC14 p.Val28Phe (c.82G>T) in the general population?

CCDC14 p.Val28Phe (c.82G>T) is absent from gnomAD v4.1 (gnomAD).

CCDC14 p.Val28Phe

c.82G>T · rs2477244567 · VCV3138402

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.226	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.5	GERP 1, phastCons 1
Overall
CADD	19.89	PHRED · no single calibrated threshold — expert panels disagree

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: CCDC14
Protein: p.Val28Phe
Coding: c.82G>T
MANE Select: NM_001366335 · reported on NM_022757
dbSNP: rs2477244567
Type: single nucleotide variant
Location: chr3:123961236 (GRCh38)
Gene constraint: LOEUF 1.08 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 57.45

Full CCDC14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CCDC14 c.38G>A Uncertain significance ★ same type
CCDC14 c.-20C>T Uncertain significance ★ same type
CCDC14 c.-30T>C Uncertain significance ★ same type
CCDC14 c.-32C>T Uncertain significance ★ same type
CCDC14 c.-33C>T Uncertain significance ★ same type
CCDC14 c.-5G>A Uncertain significance ★ same type
CCDC14 p.Ala636Pro Uncertain significance ★ same type
CCDC14 p.Ala636Val Uncertain significance ★ 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/ccdc14-p-val28phe (accessed [today's date]).

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