BMPR1A gene: bone morphogenetic protein receptor type 1A

Curated report relevant to this gene

Juvenile Polyposis Syndrome
- Autosomal dominant
  Multiple hamartomatous (juvenile) polyps of the gastrointestinal tract with an increased risk of colorectal and gastric cancer.
  - ClinGen rates the link definitive
  - 6 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Regular colonoscopy and upper endoscopy, usually from the early teens, with polyp removal; relatives can be offered testing.

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How BMPR1A is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.4 kb of the gene's 171.4 kb; 1,599 of those bases code for the protein.

How a genome test reads BMPR1A

257

positions in BMPR1A where ClinVar classes a change as pathogenic or likely pathogenic

98 of them (38%) fall in regions short reads find hard.

Low mappability (77 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
Segmental duplications (27 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 171.4 kb of BMPR1A, introns included, not only the 6.4 kb of exons.

Variants with a page (36)

The BMPR1A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.67+1G>A		Intron 3	86,876,086	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.431-1G>C		Intron 6	86,900,026	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.676-1G>C		Intron 8	86,917,133	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1166+2T>C		Intron 10	86,919,471	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1343-2A>G		Intron 11	86,923,374	Likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
C376Wfs*5	c.1127dup	Exon 10	86,919,429	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D38Rfs*33	c.111dup	Exon 4	86,890,104	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E88X	c.262G>T	Exon 5	86,892,158	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
F83Hfs*6	c.247_251del	Exon 5	86,892,138	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
G47X	c.139G>T	Exon 4	86,890,133	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 36 BMPR1A variants →

SMAD4SMAD family member 4Shares 1 condition

Traits linked to BMPR1A

The Human Phenotype Ontology lists these as features of the rare conditions BMPR1A can cause. Each trait's page lists the other genes linked to it.

Abnormality of the digestive system

Show 21 more traits

Abnormality of the nervous system

Show 19 more traits

Abnormality of head or neck

Show 1 more trait

Short chin

Abnormality of blood and blood-forming tissues

Abnormality of the genitourinary system

Abnormality of the musculoskeletal system

Abnormality of the cardiovascular system

Growth abnormality

Abnormality of limbs

Abnormality of the eye

Laboratory abnormality

Abnormality of the endocrine system

Abnormality of the integument

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). BMPR1A gene: bone morphogenetic protein receptor type 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/bmpr1a

Vancouver

Dante Labs. BMPR1A gene: bone morphogenetic protein receptor type 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bmpr1a