Is BPTF p.Gln2319Pro (c.6956A>C) pathogenic?

BPTF p.Gln2319Pro (c.6956A>C) is classified Uncertain significance in BPTF (ClinVar, Single submitter, 1 submitter; last evaluated 2019-08-08). AlphaMissense: likely benign (0.0581); Absent from gnomAD v4.1; Associated with vascular disorder.

What condition is associated with BPTF p.Gln2319Pro (c.6956A>C)?

BPTF p.Gln2319Pro (c.6956A>C) is associated with vascular disorder (ClinVar).

How common is BPTF p.Gln2319Pro (c.6956A>C) in the general population?

BPTF p.Gln2319Pro (c.6956A>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BPTF p.Gln2319Pro (c.6956A>C)?

AlphaMissense predicts likely benign (score 0.0581) — an in-silico prediction, not a clinical call.

BPTF p.Gln2319Pro

c.6956A>C · VCV4074950

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0581 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

vascular disorder

Computational evidence

Protein change
AlphaMissense	0.0581	likely benign
REVEL	0.297	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.2	GERP 1.4, phastCons 1
Regional constraint	o/e 0.90	unconstrained · MANE · 18 kb · p 0.012 · regional, not allelic
Overall
CADD	24.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

⚠ Isoform check: AlphaMissense numbered on a different transcript (AM Q2445P vs ClinVar Q2319P) — verify the residue.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: BPTF
Protein: p.Gln2319Pro
Coding: c.6956A>C
MANE Select: NM_182641
Type: single nucleotide variant
Location: chr17:67945664 (GRCh38)
Gene constraint: LOEUF 0.09 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)

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

Disease context

vascular disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BPTF p.Gln2319Glu Uncertain significance ★ ⚠ same residue
BPTF p.Arg1322Ter Pathogenic/Likely pathogenic ★★ same type
BPTF p.Arg1738Ter Pathogenic/Likely pathogenic ★★ same type
BPTF p.Arg2858Ter Pathogenic ★★ same type
BPTF p.Arg841Ter Pathogenic ★★ same type
BPTF c.1864+562A>T Uncertain significance ★★ same type
BPTF c.1865-5651C>G Uncertain significance ★★ ⚠ same type
BPTF p.Ala1197Val 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/bptf-p-gln2319pro (accessed [today's date]).

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