Is ABCB6 p.Val265fs (c.794_809del) pathogenic?

ABCB6 p.Val265fs (c.794809del) is classified Uncertain significance in ABCB6 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-18).

ABCB6 p.Val265fs

c.794_809del · VCV4959952

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 3 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.7	GERP -4.4, phastCons 0.01

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

Variant & gene context

Gene: ABCB6
Protein: p.Val265fs
Coding: c.794_809del
MANE Select: NM_005689
Type: Deletion
Location: chr2:219216711 (GRCh38)
Gene constraint: LOEUF 0.984 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 83.17 · 16 PDB
Residue 265: the abc transmembrane type-1 domain; an α-helix

Full ABCB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABCB6 p.Trp154fs Uncertain significance ★★ same type
ABCB6 p.Arg375fs Uncertain significance ★ same type
ABCB6 p.Asp641del Uncertain significance ★ same type
ABCB6 p.Gly318fs Uncertain significance ★ same type
ABCB6 p.Gly579fs Uncertain significance ★ same type
ABCB6 p.Val126fs Conflicting classifications of pathogenicity ★ same type
ABCB6 p.Val127del Uncertain significance ★ same type
ABCB6 c.687+26del Benign ★ 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/abcb6-p-val265fs (accessed [today's date]).

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