Is BORCS8 p.Asn26fs (c.71_75dup) pathogenic?

BORCS8 p.Asn26fs (c.7175dup) is classified Pathogenic in BORCS8 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2026-09-22). Associated with neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities.

What condition is associated with BORCS8 p.Asn26fs (c.71_75dup)?

BORCS8 p.Asn26fs (c.71_75dup) is associated with neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (ClinVar).

BORCS8 p.Asn26fs

c.71_75dup · VCV3363149

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities

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 2 of 6
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 1.6, phastCons 1

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

Variant & gene context

Gene: BORCS8
Protein: p.Asn26fs
Coding: c.71_75dup
MANE Select: NM_001145784
Type: Duplication
Location: chr19:19186967 (GRCh38)
Gene constraint: LOEUF 1.104 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 92.74

Full BORCS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BORCS8 p.Glu68Ter Likely pathogenic ★ same condition
BORCS8 p.Gln54Pro Uncertain significance ★ same condition
BORCS8 p.Ser29Pro Uncertain significance ★ ⚠ same condition
BORCS8 p.Ser42Pro Pathogenic same condition
BORCS8 p.Thr66Pro 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/borcs8-p-asn26fs (accessed [today's date]).

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