Is ASPM p.Gln1955fs (c.5863dup) pathogenic?

ASPM p.Gln1955fs (c.5863dup) is classified Pathogenic in ASPM (ClinVar, Single submitter, 1 submitter). Absent from gnomAD; Associated with microcephaly 1, primary, autosomal recessive.

What condition is associated with ASPM p.Gln1955fs (c.5863dup)?

ASPM p.Gln1955fs (c.5863dup) is associated with microcephaly 1, primary, autosomal recessive (ClinVar).

How common is ASPM p.Gln1955fs (c.5863dup) in the general population?

ASPM p.Gln1955fs (c.5863dup) is absent from gnomAD (gnomAD).

ASPM p.Gln1955fs

c.5863dup · rs1571600860 · VCV694714

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

Conditions

microcephaly 1, primary, autosomal recessive

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 18 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.2	GERP -0.94, 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.Gln1955fs
Coding: c.5863dup
MANE Select: NM_018136
dbSNP: rs1571600860
Type: Duplication
Location: chr1:197103387 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 1955: the iq 12 domain

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

Disease context

microcephaly 1, primary, autosomal recessive — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ASPM p.Arg3244Ter Pathogenic ★★ same condition
ASPM p.Arg980Ter Pathogenic ★★ same condition
ASPM p.Lys2595fs Pathogenic ★★ same condition
ASPM p.Trp989Ter Pathogenic ★★ same condition
ASPM p.Asn2734fs Pathogenic ★ same condition
ASPM p.Leu1063Ter Pathogenic ★ same condition
ASPM p.Arg2184fs Pathogenic/Likely pathogenic ★★ same type
ASPM p.Gln2377fs Pathogenic/Likely pathogenic ★★ 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-gln1955fs (accessed [today's date]).

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