Is CEP57 p.Ile244= (c.732C>A) pathogenic?

CEP57 p.Ile244= (c.732C>A) is classified Likely benign in CEP57 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-11-20). Ultra-rare (popmax 0.0581%, eas); Associated with Inborn genetic diseases.

What condition is associated with CEP57 p.Ile244= (c.732C>A)?

CEP57 p.Ile244= (c.732C>A) is associated with Inborn genetic diseases, mosaic variegated aneuploidy syndrome 2 (ClinVar).

How common is CEP57 p.Ile244= (c.732C>A) in the general population?

CEP57 p.Ile244= (c.732C>A) is ultra-rare (popmax 0.0581%, eas) (gnomAD).

CEP57 p.Ile244=

c.732C>A · rs537497503 · VCV1107858

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0581%, eas)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.04	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.33	GERP -1.3, phastCons 0.96
Overall
CADD	2.507	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0581% East Asian · 26/44,768 alleles

Filtering AF 0.0406% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0348%

Overall 0.00205% 33/1,612,144 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0581%	1,722
Remaining individualsnot grpmax-eligible	0.0016%	62,400
South Asian	0.0011%	91,002
European (non-Finnish)	0.000424%	235,874

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: CEP57
Protein: p.Ile244=
Coding: c.732C>A
MANE Select: NM_014679
dbSNP: rs537497503
Type: single nucleotide variant
Location: chr11:95821903 (GRCh38)
Gene constraint: LOEUF 0.74 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 76.32 · 3 PDB

Full CEP57 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: mosaic variegated aneuploidy syndrome 2

Similar variants

CEP57 p.Ile244Thr Likely benign ★ same residue
CEP57 p.Arg339Ter Pathogenic ★★ same condition
CEP57 c.202+6C>T Uncertain significance ★★ same condition
CEP57 p.Ala19Gly Uncertain significance ★★ ⚠ same condition
CEP57 p.Ala278Thr Uncertain significance ★★ ⚠ same condition
CEP57 p.Ala278Val Uncertain significance ★★ ⚠ same condition
CEP57 p.Ala412Thr Uncertain significance ★★ ⚠ same condition
CEP57 p.Ala423Thr 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/cep57-p-ile244 (accessed [today's date]).

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