Is BMP15 p.His307Arg (c.920A>G) pathogenic?

BMP15 p.His307Arg (c.920A>G) is classified Uncertain significance in BMP15 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). AlphaMissense: likely benign (0.1324); Absent from gnomAD v4.1; Associated with ovarian dysgenesis 2.

What condition is associated with BMP15 p.His307Arg (c.920A>G)?

BMP15 p.His307Arg (c.920A>G) is associated with ovarian dysgenesis 2 (ClinVar).

How common is BMP15 p.His307Arg (c.920A>G) in the general population?

BMP15 p.His307Arg (c.920A>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BMP15 p.His307Arg (c.920A>G)?

AlphaMissense predicts likely benign (score 0.1324) — an in-silico prediction, not a clinical call.

BMP15 p.His307Arg

c.920A>G · rs1923134918 · VCV913023

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1324 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

ovarian dysgenesis 2

Computational evidence

Protein change
AlphaMissense	0.1324	likely benign
REVEL	0.652	pathogenic-leaning
SaProt	LLR -6.00	tolerated
⇒ REVEL calls this damaging; AlphaMissense and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.5	GERP 1.9, phastCons 1
Regional constraint	o/e 1.09	unconstrained · MANE · 5,820 bp · p 0.097 · regional, not allelic
Overall
CADD	22.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: BMP15
Protein: p.His307Arg
Coding: c.920A>G
MANE Select: NM_005448
dbSNP: rs1923134918
Type: single nucleotide variant
Location: chrX:50916348 (GRCh38)
Structure: AlphaFold pLDDT 72.64
Residue 307: a disulfide bond

Full BMP15 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ovarian dysgenesis 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BMP15 p.His307Tyr Likely pathogenic ⚠ same residue
BMP15 p.Gly271Cys Uncertain significance ★★ ⚠ same condition
BMP15 c.-9C>G Benign ★★ same condition
BMP15 c.*13G>A Benign ★★ same condition
BMP15 p.Asn103Ser Benign ★★ same condition
BMP15 p.Gly54= Benign/Likely benign ★★ same condition
BMP15 p.His337= Benign ★★ same condition
BMP15 p.Leu148Pro Benign/Likely benign ★★ ⚠ 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/bmp15-p-his307arg (accessed [today's date]).

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