EOGT p.Arg372=
c.1114C>A · VCV4714247
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Conditions
1
Adams-Oliver syndrome 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.4 | GERP 1.3, phastCons 1 |
| Overall | ||
| CADD | 10.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/74,952 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000274%
4/1,461,490 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 74,952 |
| European (non-Finnish) | 0.000254% | 393,269 |
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
- EOGT
- Protein
- p.Arg372=
- Coding
- c.1114C>A
- MANE Select
- NM_001278689
- Type
- single nucleotide variant
- Location
- chr3:68987483 (GRCh38)
- Gene constraint
- LOEUF 1.121 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.71
Similar variants
- EOGT p.Arg372Trp Uncertain significance ★★ ⚠ same residue
- EOGT c.1335-1G>A Pathogenic/Likely pathogenic ★★ same condition
- EOGT c.311+1G>T Pathogenic/Likely pathogenic ★★ same condition
- EOGT c.621-2A>T Pathogenic/Likely pathogenic ★★ same condition
- EOGT p.Arg377Trp Uncertain significance ★★ ⚠ same condition
- EOGT p.Arg452His Uncertain significance ★★ ⚠ same condition
- EOGT p.Arg470Trp Uncertain significance ★★ ⚠ same condition
- EOGT p.Asp252Asn 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/eogt-p-arg372 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown