Is ASPM p.Ser240fs (c.718dup) pathogenic?

ASPM p.Ser240fs (c.718dup) is classified Pathogenic in ASPM (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-27). Absent from gnomAD.

How common is ASPM p.Ser240fs (c.718dup) in the general population?

ASPM p.Ser240fs (c.718dup) is absent from gnomAD (gnomAD).

ASPM p.Ser240fs

c.718dup · rs2527405766 · VCV3023119

Pathogenic Single submitter

Classification

Pathogenic

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	predicted	premature termination codon in exon 3 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.5	GERP -2.1, 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: ASPM
Protein: p.Ser240fs
Coding: c.718dup
MANE Select: NM_018136
dbSNP: rs2527405766
Type: Duplication
Location: chr1:197143533 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)

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

Similar variants

ASPM p.Ser240Cys Uncertain significance ★★ ⚠ same residue
ASPM p.Ser240Phe Uncertain significance ★ ⚠ same residue
ASPM p.Arg2184fs Pathogenic/Likely pathogenic ★★ same type
ASPM p.Gln2377fs Pathogenic/Likely pathogenic ★★ same type
ASPM p.Gln2620fs Pathogenic ★★ same type
ASPM p.Ile2445fs Pathogenic ★★ same type
ASPM p.Glu1480dup Uncertain significance ★★ same type
ASPM c.10332-20dup 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/aspm-p-ser240fs (accessed [today's date]).

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