Is EED p.Asp26= (c.78C>T) pathogenic?

EED p.Asp26= (c.78C>T) is classified Likely benign in EED (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-12-31). Ultra-rare (popmax 0.0321%, afr); Associated with Cohen-Gibson syndrome.

What condition is associated with EED p.Asp26= (c.78C>T)?

EED p.Asp26= (c.78C>T) is associated with Cohen-Gibson syndrome (ClinVar).

How common is EED p.Asp26= (c.78C>T) in the general population?

EED p.Asp26= (c.78C>T) is ultra-rare (popmax 0.0321%, afr) (gnomAD).

EED p.Asp26=

c.78C>T · rs140683797 · VCV1130122

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0321%, afr)

Conditions

Cohen-Gibson syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.018	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.36	GERP -1.2, phastCons 0.99
Overall
CADD	11.0	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0321% African / African-American · 24/74,816 alleles

Filtering AF 0.022% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0188%

Overall 0.00186% 30/1,613,248 alleles · ultra-rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0321%	3,117
Admixed American	0.00333%	29,986
South Asian	0.0022%	45,529
Remaining individualsnot grpmax-eligible	0.0016%	62,476
European (non-Finnish)	8.48e-05%	1,179,912

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: EED
Protein: p.Asp26=
Coding: c.78C>T
MANE Select: NM_003797
dbSNP: rs140683797
Type: single nucleotide variant
Location: chr11:86245307 (GRCh38)
Gene constraint: LOEUF 0.41 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 87.21 · 81 PDB
Residue 26: the 'disordered' region

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

Disease context

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

Similar variants

EED p.Asn194Ser Pathogenic/Likely pathogenic ★★ same condition
EED p.Asp237Gly Likely pathogenic ★★ same condition
EED p.Ala17Val Uncertain significance ★★ ⚠ same condition
EED p.Arg4Met Uncertain significance ★★ ⚠ same condition
EED p.Lys83Ile Uncertain significance ★★ ⚠ same condition
EED c.267+20C>G Benign/Likely benign ★★ same condition
EED c.361-19G>A Likely benign ★★ same condition
EED c.727-8G>A Benign ★★ 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/eed-p-asp26 (accessed [today's date]).

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