Is ABL1 p.Asp276fs (c.826del) pathogenic?

ABL1 p.Asp276fs (c.826del) is classified Uncertain significance in ABL1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-02-02). No gnomAD frequency available for this variant.

How common is ABL1 p.Asp276fs (c.826del) in the general population?

ABL1 p.Asp276fs (c.826del) is no gnomAD frequency available for this variant (gnomAD).

ABL1 p.Asp276fs

c.826del · rs2490715368 · VCV2438792

Uncertain significance Single submitter

Classification

Uncertain significance

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 in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.2, 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: ABL1
Protein: p.Asp276fs
Coding: c.826del
MANE Select: NM_005157
dbSNP: rs2490715368
Type: Deletion
Location: chr9:130872131 (GRCh38)
Gene constraint: LOEUF 0.19 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 64.68 · 85 PDB
Residue 276: a turn; the protein kinase domain

Full ABL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABL1 c.1679-3del Uncertain significance ★ same type
ABL1 p.Asp391fs Uncertain significance ★ same type
ABL1 p.Gln627fs Uncertain significance ★ same type
ABL1 p.Glu549fs Uncertain significance ★ same type
ABL1 p.Gly864fs Uncertain significance ★ same type
ABL1 p.Ile360fs Uncertain significance ★ same type
ABL1 p.Ile641del Uncertain significance ★ same type
ABL1 p.Leu55del Uncertain significance ★ 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/abl1-p-asp276fs (accessed [today's date]).

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