Is CAPRIN1 p.Ala280fs (c.837del) pathogenic?

CAPRIN1 p.Ala280fs (c.837del) is classified Pathogenic in CAPRIN1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-08). Associated with neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder.

CAPRIN1 p.Ala280fs

Q: What condition is associated with CAPRIN1 p.Ala280fs (c.837del)?

CAPRIN1 p.Ala280fs (c.837del) is associated with neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (ClinVar).

c.837del · VCV4850120

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 8 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 1.8, phastCons 1

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

Variant & gene context

Gene: CAPRIN1
Protein: p.Ala280fs
Coding: c.837del
MANE Select: NM_005898
Type: Deletion
Location: chr11:34082835 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 58.64 · 6 PDB
Residue 280: the 'disordered' region

Full CAPRIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CAPRIN1 p.Asp578fs Likely pathogenic ★ same condition
CAPRIN1 p.Ile127fs Likely pathogenic ★ same condition
CAPRIN1 p.Arg458Ter Pathogenic ★★ same condition
CAPRIN1 p.Arg356Ter Pathogenic ★ same condition
CAPRIN1 p.Arg358Ter Pathogenic ★ same condition
CAPRIN1 p.Glu564fs Pathogenic ★ same condition
CAPRIN1 p.Gly31Ter Likely pathogenic ★ same condition
CAPRIN1 p.Ser482Ter Likely pathogenic ★ same condition

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/caprin1-p-ala280fs (accessed [today's date]).

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