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NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) AND Acromesomelic dysplasia 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 24, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000201128.4

Allele description [Variation Report for NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)]

NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)

Gene:
BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.3
Genomic location:
Preferred name:
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)
HGVS:
  • NC_000004.12:g.95104515C>T
  • NG_009245.1:g.351539C>T
  • NM_001203.3:c.91C>TMANE SELECT
  • NM_001256792.2:c.91C>T
  • NM_001256793.2:c.181C>T
  • NM_001256794.1:c.91C>T
  • NP_001194.1:p.Arg31Cys
  • NP_001243721.1:p.Arg31Cys
  • NP_001243722.1:p.Arg61Cys
  • NP_001243723.1:p.Arg31Cys
  • NC_000004.11:g.96025666C>T
  • O00238:p.Arg31Cys
Protein change:
R31C; ARG31CYS
Links:
UniProtKB: O00238#VAR_075520; OMIM: 603248.0007; dbSNP: rs745854387
NCBI 1000 Genomes Browser:
rs745854387
Molecular consequence:
  • NM_001203.3:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256792.2:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256793.2:c.181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256794.1:c.91C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acromesomelic dysplasia 3 (AMD3)
Synonyms:
Chondrodysplasia acromesomelic with genital anomalies; CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES; Acromesomelic dysplasia, Demirhan type
Identifiers:
MONDO: MONDO:0012274; MedGen: C4225404; OMIM: 609441

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255924OMIM
no assertion criteria provided
Pathogenic
(Jun 24, 2015) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G.

Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5.

PubMed [citation]
PMID:
26105076
PMCID:
PMC4482310

Details of each submission

From OMIM, SCV000255924.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 38-year-old woman with acromesomelic dysplasia (AMD3; 609441), who was born to first-cousin parents originating from Morocco, Stange et al. (2015) identified a homozygous c.91C-T transition (c.91C-T, NM_001256794.1) in the BMPR1B gene, resulting in an arg31-to-cys (R31C) substitution. Three of her sibs were reportedly affected, but DNA was not available for testing from any of her family members. The mutation was not identified in exome sequences from 30 Moroccan patients with unrelated disorders, and no R31C homozygotes or heterozygotes were present in the 5,718 exomes in the Institut Imagine (Paris) in-house database, which is enriched for exomes of Maghrebian individuals and contains a conservatively estimated 33 Moroccan exomes. By confocal microscopy, Stange et al. (2015) showed that the mutant R31C receptor was translocated at the cell surface. A luciferase reporter gene assay revealed that the R31C mutant could be stimulated by GDF5, but its signal had diminished biologic activity compared to wildtype BMPR1B. Stange et al. (2015) diagnosed the patient with Du Pan acromesomelic dysplasia (AMD2B; 228900), which is caused by mutation in the GDF5 gene (601146).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023