Is PLAA p.Ile772fs (c.2315_2318del) pathogenic?

PLAA p.Ile772fs (c.23152318del) is classified Uncertain significance in PLAA (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-15). No gnomAD frequency available for this variant.

How common is PLAA p.Ile772fs (c.2315_2318del) in the general population?

PLAA p.Ile772fs (c.2315_2318del) is no gnomAD frequency available for this variant (gnomAD).

PLAA p.Ile772fs

c.2315_2318del · rs2131360652 · VCV1418486

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (14 of 14) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.9	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PLAA
Protein: p.Ile772fs
Coding: c.2315_2318del
MANE Select: NM_001031689
dbSNP: rs2131360652
Type: Deletion
Location: chr9:26905581 (GRCh38)
Gene constraint: LOEUF 0.678 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.87 · 5 PDB
Residue 772: an α-helix; the pul domain

Full PLAA gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

PLAA p.Ser484_Thr487del Uncertain significance ★★ same type
PLAA c.1823-6del Benign/Likely benign ★★ same type
PLAA p.Asp284fs Likely pathogenic ★ same type
PLAA p.Lys783_Val784insTer Likely pathogenic ★ same type
PLAA c.1039+4_1039+7del Uncertain significance ★ same type
PLAA c.1486+5del Uncertain significance ★ same type
PLAA c.445-2_445-1del Uncertain significance ★ same type
PLAA p.Ala198fs 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/plaa-p-ile772fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown