Is BPTF p.Ala2819Phe (c.8455_8456delinsTT) pathogenic?

BPTF p.Ala2819Phe (c.84558456delinsTT) is classified Uncertain significance in BPTF (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-06-23). Associated with Inborn genetic diseases.

What condition is associated with BPTF p.Ala2819Phe (c.8455_8456delinsTT)?

BPTF p.Ala2819Phe (c.8455_8456delinsTT) is associated with Inborn genetic diseases (ClinVar).

BPTF p.Ala2819Phe

c.8455_8456delinsTT · VCV3261417

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.3, phastCons 1
Regional constraint	o/e 0.42	unconstrained · MANE · 6,772 bp · p 5.9e-10 · regional, not allelic
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

Variant & gene context

Gene: BPTF
Protein: p.Ala2819Phe
Coding: c.8455_8456delinsTT
MANE Select: NM_182641
Type: Indel
Location: chr17:67966572 (GRCh38)
Gene constraint: LOEUF 0.09 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Residue 2819: the 'disordered' region

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BPTF p.Ala2819Ser Uncertain significance ★ ⚠ same residue
BPTF p.Ala2819Val Uncertain significance ★ same residue
BPTF p.Leu687fs Pathogenic ★ same condition
BPTF p.Thr783fs Pathogenic ★★ same condition
BPTF p.Ala1197Val Uncertain significance ★★ ⚠ same condition
BPTF p.Ala1252Val Uncertain significance ★★ ⚠ same condition
BPTF p.Arg1078Gln Uncertain significance ★★ same condition
BPTF p.Arg2139His Uncertain significance ★★ ⚠ 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/bptf-p-ala2819phe (accessed [today's date]).

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