Is ASPM p.Lys2062fs (c.6183_6184del) pathogenic?

ASPM p.Lys2062fs (c.61836184del) is classified Pathogenic in ASPM (ClinVar, Single submitter, 1 submitter; last evaluated 2015-04-13). Absent from gnomAD.

How common is ASPM p.Lys2062fs (c.6183_6184del) in the general population?

ASPM p.Lys2062fs (c.6183_6184del) is absent from gnomAD (gnomAD).

ASPM p.Lys2062fs

c.6183_6184del · rs750664956 · VCV234435

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 18 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.014	GERP 0.38

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.Lys2062fs
Coding: c.6183_6184del
MANE Select: NM_018136
dbSNP: rs750664956
Type: Deletion
Location: chr1:197103067 (GRCh38)
Gene constraint: LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 2062: the iq 15 domain

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

Similar variants

ASPM p.Lys2062Ile Uncertain significance ★ ⚠ same residue
ASPM p.Ala3113fs Pathogenic ★★ same type
ASPM p.Arg2005fs Pathogenic ★★ same type
ASPM p.Asn1095fs Likely pathogenic ★★ same type
ASPM p.Asn3136fs Likely pathogenic ★★ same type
ASPM p.Asn324fs Pathogenic/Likely pathogenic ★★ same type
ASPM p.Asn394fs Pathogenic ★★ same type
ASPM p.Asp1285fs 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-lys2062fs (accessed [today's date]).

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