Variant
BMPR1A R152X
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)
- p.Arg152Ter
- p.R152*
- rs1131691178
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 26 May 2023
Data current to ClinVar release 2026-10-19 · Dante Labs data release 2026.10.21-777c9289Facts last changed 21 October 2026
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R152X is a nonsense variant in BMPR1A: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for Juvenile polyposis syndrome (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Juvenile polyposis syndromeClinVar VCV000429099 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 26 May 2023 |
Classifications as ClinVar records them in release 2026-10-19. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria R152X meets, from its predicted effect in BMPR1A, gnomAD and ClinVar.
| Criterion | Strength | Points | Rests on |
|---|---|---|---|
| PVS1Null variant where loss of function causes disease | Very strong | +8 | stop_gained on NM_004329.3Expected to cause nonsense-mediated decay |
| PM2Absent or very rare in population databases | Supporting | +1 | Not seen in gnomAD exomes, gnomAD genomes |
| PP5A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: +9 points, likely pathogenic.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Population frequency
How often R152X is seen among the people whose exomes and genomes gnomAD 4.1 brings together.
| Dataset | Allele frequency | Allele count | Homozygotes | Commonest in |
|---|---|---|---|---|
| gnomAD exomes | Not seen | 0 of 0 | 0 | |
| gnomAD genomes | Not seen | 0 of 0 | 0 |
Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.
Molecular details
| Gene | BMPR1A |
|---|---|
| Transcript | NM_004329.3MANE Select |
| Coding DNA change (HGVS c.) | c.454C>T |
| Protein change (HGVS p.) | p.Arg152Terp.R152* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr10:86900050 C>T |
| Position (GRCh37) | chr10:88659807 C>T |
| dbSNP ID | rs1131691178 (opens in a new tab) |
| ClinVar Variation ID | VCV000429099 (opens in a new tab) |
| ClinVar Allele ID | 421051 |
| ClinGen Allele Registry ID | CA377450232 (opens in a new tab) |
| ClinVar name | NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) |
BMPR1A R152X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include R152X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Juvenile Polyposis Syndrome | Juvenile polyposis syndrome | Autosomal dominant |
Other variants in BMPR1A
- c.67+1G>APathogenic/likely pathogenic2 stars out of 4
- c.431-1G>CLikely pathogenic2 stars out of 4
- c.676-1G>CPathogenic/likely pathogenic2 stars out of 4
- c.1166+2T>CLikely pathogenic2 stars out of 4
- c.1343-2A>GLikely pathogenic2 stars out of 4
- C376Wfs*5Pathogenic2 stars out of 4
- D38Rfs*33Pathogenic2 stars out of 4
- E88XPathogenic2 stars out of 4
- F83Hfs*6Pathogenic2 stars out of 4
- G47XPathogenic2 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-19), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-21-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-21).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.21-777c9289 of 21 October 2026.
Cite this page
Dante Labs. (21 October 2026). BMPR1A R152X (c.454C>T, rs1131691178) (Version 2026.10.21-777c9289). Retrieved 21 October 2026, from https://dantelabs.com/genes/bmpr1a/variants/r152x
Dante Labs. BMPR1A R152X (c.454C>T, rs1131691178) [Internet]. Version 2026.10.21-777c9289. 21 October 2026 [cited 21 October 2026]. Available from: https://dantelabs.com/genes/bmpr1a/variants/r152x
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