Is ASPM p.Ala1406Phe (c.4216_4217delinsTT) pathogenic?

ASPM p.Ala1406Phe (c.42164217delinsTT) is classified Uncertain significance in ASPM (ClinVar, Single submitter, 1 submitter; last evaluated 2017-02-24). Absent from gnomAD.

How common is ASPM p.Ala1406Phe (c.4216_4217delinsTT) in the general population?

ASPM p.Ala1406Phe (c.4216_4217delinsTT) is absent from gnomAD (gnomAD).

ASPM p.Ala1406Phe

c.4216_4217delinsTT · rs1064796504 · VCV423578

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 10	GERP 1.4, phastCons 1
Regional constraint	o/e 1.01	unconstrained · MANE · 59 kb · p 0.59 · regional, not allelic

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.Ala1406Phe
Coding: c.4216_4217delinsTT
MANE Select: NM_018136
dbSNP: rs1064796504
Type: Indel
Location: chr1:197105034 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 1406: the iq 2 domain

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

Similar variants

ASPM p.Ala1406Thr Uncertain significance ★ ⚠ same residue
ASPM p.Ala2824fs Pathogenic ★ same type
ASPM p.Ile906fs Pathogenic ★ same type
ASPM p.Lys1624fs Pathogenic ★ same type
ASPM p.Lys2900fs Pathogenic ★ same type
ASPM p.Pro470fs Pathogenic ★ same type
ASPM p.Arg1667Phe Uncertain significance ★ same type
ASPM p.Gln3180Pro Conflicting classifications of pathogenicity ★ 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-ala1406phe (accessed [today's date]).

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