Is BMPR2 p.Arg114fs (c.339_340insAA) pathogenic?

BMPR2 p.Arg114fs (c.339340insAA) is classified Pathogenic in BMPR2 (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD; Associated with pulmonary hypertension, primary, 1.

What condition is associated with BMPR2 p.Arg114fs (c.339_340insAA)?

BMPR2 p.Arg114fs (c.339_340insAA) is associated with pulmonary hypertension, primary, 1 (ClinVar).

How common is BMPR2 p.Arg114fs (c.339_340insAA) in the general population?

BMPR2 p.Arg114fs (c.339_340insAA) is absent from gnomAD (gnomAD).

BMPR2 p.Arg114fs

c.339_340insAA · rs1085307212 · VCV425763

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

pulmonary hypertension, primary, 1

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 3 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.25	GERP -0.71, phastCons 0.17

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: BMPR2
Protein: p.Arg114fs
Coding: c.339_340insAA
MANE Select: NM_001204
dbSNP: rs1085307212
Type: Insertion
Location: chr2:202467610 (GRCh38)
Gene constraint: LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 58.07 · 7 PDB
Residue 114: a disulfide bond; a β-strand

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

Disease context

pulmonary hypertension, primary, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BMPR2 p.Arg114His Uncertain significance ★★ ⚠ same residue
BMPR2 p.Lys81Ter Likely pathogenic ★★★ same condition
BMPR2 p.Ile507fs Pathogenic ★ same condition
BMPR2 p.Thr104fs Likely pathogenic ★ same condition
BMPR2 p.Val429fs Likely pathogenic ★ same condition
BMPR2 p.Arg114Cys Uncertain significance ★ ⚠ same residue
BMPR2 c.1277-10_1277-9insGGG Pathogenic same condition
BMPR2 p.Pro141fs 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-p-arg114fs (accessed [today's date]).

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