PLIN1 p.Ser277=
c.831C>T · rs759336372 · VCV725019
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.044%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.21 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP -4.5 |
| Overall | ||
| CADD | 3.615 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.044%
Admixed American · 23/52,316 alleles
Filtering AF
0.03%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0254%
Overall
0.00739%
116/1,570,044 alleles · ultra-rare
exomes 100/1,417,872 · genomes 16/152,172 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.044% | 2,275 |
| South Asian | 0.0292% | 3,427 |
| Middle Eastern | 0.0166% | 6,026 |
| East Asian | 0.0117% | 8,551 |
| Remaining individualsnot grpmax-eligible | 0.00656% | 15,241 |
| European (non-Finnish) | 0.00492% | 20,310 |
| Finnishnot grpmax-eligible | 0.00164% | 60,812 |
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
- PLIN1
- Protein
- p.Ser277=
- Coding
- c.831C>T
- MANE Select
- NM_002666
- dbSNP
- rs759336372
- Type
- single nucleotide variant
- Location
- chr15:89667734 (GRCh38)
- Gene constraint
- LOEUF 1.201 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 54.52
Similar variants
- PLIN1 p.Ala361Glu Uncertain significance ★★ ⚠ same type
- PLIN1 p.Arg125Cys Uncertain significance ★★ ⚠ same type
- PLIN1 p.Glu151Lys Uncertain significance ★★ ⚠ same type
- PLIN1 p.Leu404Phe Uncertain significance ★★ ⚠ same type
- PLIN1 p.Leu90Pro Uncertain significance ★★ ⚠ same type
- PLIN1 p.Thr345Ala Uncertain significance ★★ ⚠ same type
- PLIN1 c.1209+9C>T Benign ★★ same type
- PLIN1 c.251-153G>T Benign ★★ 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/plin1-p-ser277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown