Is DCPS p.Glu306Asp (c.918G>C) pathogenic?

DCPS p.Glu306Asp (c.918G>C) is classified Uncertain significance in DCPS (ClinVar, No assertion criteria, 1 submitter). AlphaMissense: likely benign (0.3092); Very rare (popmax 8.47e-05%, nfe); Associated with Al-Raqad syndrome.

What condition is associated with DCPS p.Glu306Asp (c.918G>C)?

DCPS p.Glu306Asp (c.918G>C) is associated with Al-Raqad syndrome (ClinVar).

How common is DCPS p.Glu306Asp (c.918G>C) in the general population?

DCPS p.Glu306Asp (c.918G>C) is very rare (popmax 8.47e-05%, nfe) (gnomAD).

What do computational predictors say about DCPS p.Glu306Asp (c.918G>C)?

AlphaMissense predicts likely benign (score 0.3092) — an in-silico prediction, not a clinical call.

DCPS p.Glu306Asp

c.918G>C · rs1215363009 · VCV870490

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3092 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 8.47e-05%, nfe)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Al-Raqad syndrome

Computational evidence

Protein change
AlphaMissense	0.3092	likely benign
REVEL	0.07	moderately benign-leaning
SaProt	LLR -10.51	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.3	GERP 5, phastCons 1
Regional constraint	o/e 1.06	unconstrained · MANE · 42 kb · p 0.2 · regional, not allelic
Overall
CADD	22.0	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

Grpmax group 8.47e-05% European (non-Finnish) · 1/1,180,038 alleles

Overall 6.84e-05% 1/1,461,772 alleles · very rare

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: DCPS
Protein: p.Glu306Asp
Coding: c.918G>C
MANE Select: NM_014026
dbSNP: rs1215363009
Type: single nucleotide variant
Location: chr11:126345517 (GRCh38)
Gene constraint: LOEUF 1 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.18 · 11 PDB
Residue 306: an α-helix

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

Disease context

Al-Raqad syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DCPS p.Arg152Ter Likely pathogenic ★★ same condition
DCPS p.Ala184Thr Uncertain significance ★★ ⚠ same condition
DCPS p.Pro235Leu Uncertain significance ★★ ⚠ same condition
DCPS p.Gln105= Benign ★★ same condition
DCPS p.Phe63= Benign ★★ same condition
DCPS c.201+1G>T Likely pathogenic ★ same condition
DCPS p.Glu286Ter Likely pathogenic ★ same condition
DCPS c.201+4C>G 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/dcps-p-glu306asp (accessed [today's date]).

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