Is BMPR2 c.967+4del pathogenic?

BMPR2 c.967+4del is classified Pathogenic in BMPR2 (ClinVar, No assertion criteria, 2 submitters). Absent from gnomAD; Associated with pulmonary arterial hypertension.

What condition is associated with BMPR2 c.967+4del?

BMPR2 c.967+4del is associated with pulmonary arterial hypertension, pulmonary hypertension, primary, 1 (ClinVar).

How common is BMPR2 c.967+4del in the general population?

BMPR2 c.967+4del is absent from gnomAD (gnomAD).

BMPR2 c.967+4del

Q: How is Idiopathic/heritable pulmonary arterial hypertension inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

rs1085307278 · VCV425849

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

pulmonary arterial hypertension

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
Splice region	donor +4	donor splice region (+4, within the first 6 intronic nt) · inside the BP7-excluded zone
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2.4, phastCons 1

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: BMPR2
Coding: c.967+4del
MANE Select: NM_001204
dbSNP: rs1085307278
Type: Deletion
Location: chr2:202520204 (GRCh38)
Gene constraint: LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 58.07 · 7 PDB

Full BMPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

pulmonary arterial hypertension — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: pulmonary hypertension, primary, 1

For Idiopathic/heritable pulmonary arterial hypertension (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Onset: All ages
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

BMPR2 c.247+1_247+7del Likely pathogenic ★★★ same condition
BMPR2 c.247+2del Likely pathogenic ★★★ same condition
BMPR2 c.419-38del Benign ★★★ same condition
BMPR2 p.Asn861fs Pathogenic ★★ same condition
BMPR2 p.Gly390fs Pathogenic/Likely pathogenic ★★ same condition
BMPR2 p.Lys230fs Pathogenic ★★ same condition
BMPR2 p.Phe773fs Pathogenic ★★ same condition
BMPR2 p.Pro366fs Pathogenic ★★ 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/bmpr2-c-967-plus-4del (accessed [today's date]).

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