PLG p.Asp381=
c.1143T>C · rs749182016 · VCV3042511
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.146%, sas)
Conditions
1
PLG-related disorder
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 -20 | GERP -3.5 |
| Overall | ||
| CADD | 0.047 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.146%
South Asian · 133/91,072 alleles
Filtering AF
0.126%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.118%
Overall
0.00855%
138/1,613,372 alleles · rare
exomes 133/1,461,080 · genomes 5/152,292 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.146% | 685 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,496 |
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
- PLG
- Protein
- p.Asp381=
- Coding
- c.1143T>C
- MANE Select
- NM_000301
- dbSNP
- rs749182016
- Type
- single nucleotide variant
- Location
- chr6:160722454 (GRCh38)
- Gene constraint
- LOEUF 0.559 · pLI 0.17 (gnomAD)
- Structure
- AlphaFold pLDDT 83.53 · 49 PDB
- Residue 381
- the kringle 4 domain
Disease context
PLG-related disorder
Similar variants
- PLG p.Lys38Glu Pathogenic/Likely pathogenic ★★ ⚠ same condition
- PLG p.Gly751Arg Uncertain significance ★★ ⚠ same condition
- PLG p.Glu191Ter Likely pathogenic ★ same condition
- PLG c.1439-8C>A Likely benign same condition
- PLG c.*7G>A Likely benign same condition
- PLG p.Met423fs Likely pathogenic ★ same condition
- PLG p.Lys330Glu Pathogenic ★★ ⚠ same type
- PLG c.2271+5G>A 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/plg-p-asp381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown