Is BMP7 p.Arg191= (c.573G>T) pathogenic?

BMP7 p.Arg191= (c.573G>T) is classified Benign in BMP7 (ClinVar, Single submitter, 2 submitters; last evaluated 2024-08-18). Rare (popmax 0.48%, afr).

How common is BMP7 p.Arg191= (c.573G>T) in the general population?

BMP7 p.Arg191= (c.573G>T) is rare (popmax 0.48%, afr) (gnomAD).

BMP7 p.Arg191=

c.573G>T · rs139592459 · VCV2714163

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.48%, afr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.462	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.34	GERP -3.5, phastCons 0.093
Overall
CADD	7.271	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.48% African / African-American · 360/75,030 alleles

Filtering AF 0.439% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.423%

Overall 0.0249% 402/1,614,038 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.48%	208
Remaining individualsnot grpmax-eligible	0.04%	2,500
Admixed American	0.02%	5,002
European (non-Finnish)	0.000424%	236,006

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: BMP7
Protein: p.Arg191=
Coding: c.573G>T
MANE Select: NM_001719
dbSNP: rs139592459
Type: single nucleotide variant
Location: chr20:57228267 (GRCh38)
Gene constraint: LOEUF 0.523 · pLI 0.96 (gnomAD)
Structure: AlphaFold pLDDT 76.50 · 4 PDB

Full BMP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BMP7 p.Arg150His Uncertain significance ★★ ⚠ same type
BMP7 p.Arg267Gln Uncertain significance ★★ ⚠ same type
BMP7 p.His241Tyr Uncertain significance ★★ ⚠ same type
BMP7 p.Ile386Val Uncertain significance ★★ ⚠ same type
BMP7 p.Leu160Phe Uncertain significance ★★ ⚠ same type
BMP7 p.Pro116Ser Uncertain significance ★★ ⚠ same type
BMP7 p.Ser248Leu Uncertain significance ★★ ⚠ same type
BMP7 p.Thr251Met 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/bmp7-p-arg191 (accessed [today's date]).

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