Is TFAP2B p.Pro147fs (c.439_442del) pathogenic?

TFAP2B p.Pro147fs (c.439442del) is classified Pathogenic in TFAP2B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2016-10-17). No gnomAD frequency available for this variant; Associated with patent ductus arteriosus 2.

What condition is associated with TFAP2B p.Pro147fs (c.439_442del)?

TFAP2B p.Pro147fs (c.439_442del) is associated with patent ductus arteriosus 2 (ClinVar).

How common is TFAP2B p.Pro147fs (c.439_442del) in the general population?

TFAP2B p.Pro147fs (c.439_442del) is no gnomAD frequency available for this variant (gnomAD).

TFAP2B p.Pro147fs

c.439_442del · rs879253871 · VCV243019

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

patent ductus arteriosus 2

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 2 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6	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: TFAP2B
Protein: p.Pro147fs
Coding: c.439_442del
MANE Select: NM_003221
dbSNP: rs879253871
Type: Microsatellite
Location: chr6:50823759 (GRCh38)
Gene constraint: LOEUF 0.353 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 65.95 · 1 PDB

Full TFAP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

patent ductus arteriosus 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TFAP2B p.Tyr22Ter Likely pathogenic ★ same condition
TFAP2B p.Asn434Lys Uncertain significance ★ ⚠ same condition
TFAP2B p.Asp28Gly Uncertain significance ★ ⚠ same condition
TFAP2B p.Val271Leu Uncertain significance ★ ⚠ same condition
TFAP2B c.541-2A>T Pathogenic same condition
TFAP2B c.601+5G>A Pathogenic same condition
TFAP2B c.541-3_541-2del Uncertain significance ★★ same type
TFAP2B c.540+7ACAA[4] Benign/Likely 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/tfap2b-p-pro147fs (accessed [today's date]).

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