Is BMPR2 p.Arg937= (c.2811G>A) pathogenic?

BMPR2 p.Arg937= (c.2811G>A) is classified Benign in BMPR2 (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-02-04). Common (popmax 23.5%, sas) — too common for a highly-penetrant pathogenic allele; Associated with Primary pulmonary hypertension.

What condition is associated with BMPR2 p.Arg937= (c.2811G>A)?

BMPR2 p.Arg937= (c.2811G>A) is associated with Primary pulmonary hypertension, pulmonary hypertension, primary, 1 (ClinVar).

BMPR2 p.Arg937=

Q: How common is BMPR2 p.Arg937= (c.2811G>A) in the general population?

BMPR2 p.Arg937= (c.2811G>A) is common (popmax 23.5%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2811G>A · rs1061157 · VCV136529

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Common

common (popmax 23.5%, sas) — too common for a highly-penetrant pathogenic allele

Conditions

Primary pulmonary hypertension

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.9	GERP -0.79, phastCons 1
Overall
CADD	6.79	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 23.5% South Asian · 21,366/91,074 alleles

Filtering AF 23.2% ClinGen BA1/BS1 input FAF95, joint · FAF99 23.1%

Overall 11.8% 189,891/1,613,998 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	23.5%	4
Finnishnot grpmax-eligible	12.2%	8
Remaining individualsnot grpmax-eligible	12.1%	8
European (non-Finnish)	11.8%	8
Middle Eastern	11.8%	8
Admixed American	9.04%	11
Amishnot grpmax-eligible	8.7%	11
East Asian	7.78%	13
Ashkenazi Jewishnot grpmax-eligible	7.53%	13
African / African-American	1.95%	51

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: BMPR2
Protein: p.Arg937=
Coding: c.2811G>A
MANE Select: NM_001204
dbSNP: rs1061157
Type: single nucleotide variant
Location: chr2:202556476 (GRCh38)
Gene constraint: LOEUF 0.376 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 58.07 · 7 PDB
Residue 937: a UniProt-annotated variant site (in pph1; changed localization to the plasma membrane); a UniProt-annotated variant site (in pph1; loss of localization to the plasma membrane; localized to the cytoplasm); the 'disordered' region

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

Disease context

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

Also linked: pulmonary hypertension, primary, 1

Similar variants

BMPR2 c.1276+3A>G Likely pathogenic ★★★ same condition
BMPR2 c.1276+3A>T Likely pathogenic ★★★ same condition
BMPR2 c.1276+4A>G Likely pathogenic ★★★ same condition
BMPR2 c.1277-8A>G Pathogenic ★★★ same condition
BMPR2 c.1277-9A>G Pathogenic ★★★ same condition
BMPR2 c.1413+1G>A Pathogenic ★★★ same condition
BMPR2 c.247+1G>A Likely pathogenic ★★★ same condition
BMPR2 c.247+6T>G Likely 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-arg937 (accessed [today's date]).

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