DGAT1 p.Ala232=
c.696C>T · rs2488953253 · VCV2828740
Likely benign
Single submitter
Classification
Likely benign
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.3 | GERP -0.51, phastCons 1 |
| Overall | ||
| CADD | 5.375 | 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
- DGAT1
- Protein
- p.Ala232=
- Coding
- c.696C>T
- MANE Select
- NM_012079
- dbSNP
- rs2488953253
- Type
- single nucleotide variant
- Location
- chr8:144318150 (GRCh38)
- Gene constraint
- LOEUF 1.055 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.86 · 5 PDB
- Residue 232
- the 'mboat fold' region; the 'intracellular loop 1 (il1)' region
Similar variants
- DGAT1 p.Ala232Thr Uncertain significance ★ ⚠ same residue
- DGAT1 c.1094+2T>C Pathogenic/Likely pathogenic ★★ same type
- DGAT1 c.1160+1G>A Likely pathogenic ★★ same type
- DGAT1 c.574+1G>T Likely pathogenic ★★ same type
- DGAT1 c.676+1G>A Likely pathogenic ★★ same type
- DGAT1 c.751+2T>C Pathogenic ★★ same type
- DGAT1 p.Arg280Ter Pathogenic/Likely pathogenic ★★ same type
- DGAT1 p.Arg395Ter Pathogenic/Likely pathogenic ★★ 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/dgat1-p-ala232 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown