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NM_001202.6(BMP4):c.278A>G (p.Glu93Gly) AND Microphthalmia with brain and digit anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2008
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:
RCV000019275.28

Allele description [Variation Report for NM_001202.6(BMP4):c.278A>G (p.Glu93Gly)]

NM_001202.6(BMP4):c.278A>G (p.Glu93Gly)

Gene:
BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.2
Genomic location:
Preferred name:
NM_001202.6(BMP4):c.278A>G (p.Glu93Gly)
HGVS:
  • NC_000014.9:g.53951945T>C
  • NG_009215.1:g.9892A>G
  • NM_001202.6:c.278A>GMANE SELECT
  • NM_001347912.1:c.419A>G
  • NM_001347913.2:c.89A>G
  • NM_001347914.2:c.278A>G
  • NM_001347915.2:c.89A>G
  • NM_001347916.1:c.278A>G
  • NM_001347917.1:c.89A>G
  • NM_130850.5:c.278A>G
  • NM_130851.4:c.278A>G
  • NP_001193.2:p.Glu93Gly
  • NP_001334841.1:p.Glu140Gly
  • NP_001334842.1:p.Glu30Gly
  • NP_001334843.1:p.Glu93Gly
  • NP_001334844.1:p.Glu30Gly
  • NP_001334845.1:p.Glu93Gly
  • NP_001334846.1:p.Glu30Gly
  • NP_570911.2:p.Glu93Gly
  • NP_570912.2:p.Glu93Gly
  • NC_000014.8:g.54418663T>C
  • P12644:p.Glu93Gly
Protein change:
E140G; GLU93GLY
Links:
UniProtKB: P12644#VAR_043532; OMIM: 112262.0002; dbSNP: rs121912765
NCBI 1000 Genomes Browser:
rs121912765
Molecular consequence:
  • NM_001202.6:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347912.1:c.419A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347913.2:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347914.2:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347915.2:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347916.1:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347917.1:c.89A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130850.5:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130851.4:c.278A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Microphthalmia with brain and digit anomalies (MCOPS6)
Synonyms:
Microphthalmia syndromic 6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011936; MedGen: C1864689; Orphanet: 139471; OMIM: 607932

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039563OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2008) 		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

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.

Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31.

PubMed [citation]
PMID:
18252212
PMCID:
PMC2427285

Details of each submission

From OMIM, SCV000039563.2

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

Description

In a patient with eye, brain, and digit developmental anomalies (MCOPS6; 607932), Bakrania et al. (2008) identified a 278A-G transition in the BMP4 gene that resulted in a glu93-to-gly substitution (E93G). The right eye of the patient showed microphthalmia, sclerocornea, and orbital cyst; the left eye showed microphthalmia, coloboma, and microcornea. Cranial MRI showed delayed myelination and mild reduction in white matter. The proband had developmental delay, seizures, undescended testes, simple prominent ears, broad hands, low-placed thumbs, and dysplastic nails.

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

Last Updated: Apr 23, 2022