DGAT2 p.Leu91=
c.273C>T · VCV4688644
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.101%, afr)
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 0.81 | GERP 0.64, phastCons 1 |
| Overall | ||
| CADD | 8.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.101%
African / African-American · 76/75,034 alleles
Filtering AF
0.0829%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0762%
Overall
0.00607%
98/1,614,090 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.101% | 987 |
| Middle Eastern | 0.0832% | 1,202 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,417 |
| East Asian | 0.00668% | 14,959 |
| Admixed American | 0.00333% | 30,015 |
| South Asian | 0.0011% | 91,080 |
| European (non-Finnish) | 0.000424% | 236,002 |
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
- DGAT2
- Protein
- p.Leu91=
- Coding
- c.273C>T
- MANE Select
- NM_032564
- Type
- single nucleotide variant
- Location
- chr11:75790210 (GRCh38)
- Gene constraint
- LOEUF 0.93 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.52
Similar variants
- DGAT2 p.Glu15Val Uncertain significance ★★ ⚠ same type
- DGAT2 p.Ile313Val Uncertain significance ★★ ⚠ same type
- DGAT2 p.Tyr223Ser Uncertain significance ★★ ⚠ same type
- DGAT2 p.Arg297Gln Benign/Likely benign ★★ ⚠ same type
- DGAT2 p.Gly318Ser Likely benign ★★ ⚠ same type
- DGAT2 p.Ile355= Likely benign ★★ same type
- DGAT2 p.Ser230= Benign/Likely benign ★★ same type
- DGAT2 p.Ala253Val Uncertain significance ★ ⚠ 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/dgat2-p-leu91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown