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NM_000516.7(GNAS):c.725del (p.Thr242fs) AND Progressive osseous heteroplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 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:
RCV000017283.24

Allele description [Variation Report for NM_000516.7(GNAS):c.725del (p.Thr242fs)]

NM_000516.7(GNAS):c.725del (p.Thr242fs)

Gene:
GNAS:GNAS complex locus [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_000516.7(GNAS):c.725del (p.Thr242fs)
HGVS:
  • NC_000020.11:g.58909690del
  • NG_016194.2:g.74951del
  • NM_000516.7:c.725delMANE SELECT
  • NM_001077488.5:c.728del
  • NM_001077489.4:c.680del
  • NM_001077490.3:c.*586del
  • NM_001309840.2:c.548del
  • NM_001309861.2:c.548del
  • NM_016592.5:c.*631del
  • NM_080425.4:c.2654del
  • NM_080426.4:c.683del
  • NP_000507.1:p.Thr242fs
  • NP_001070956.1:p.Thr243fs
  • NP_001070957.1:p.Thr227fs
  • NP_001296769.1:p.Thr183fs
  • NP_001296790.1:p.Thr183fs
  • NP_536350.2:p.Thr885fs
  • NP_536351.1:p.Thr228fs
  • NC_000020.10:g.57484745del
  • NM_000516.4:c.725delC
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
T183fs
Links:
OMIM: 139320.0003; dbSNP: rs1601163749
NCBI 1000 Genomes Browser:
rs1601163749
Molecular consequence:
  • NM_001077490.3:c.*586del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_016592.5:c.*631del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000516.7:c.725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077488.5:c.728del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077489.4:c.680del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001309840.2:c.548del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001309861.2:c.548del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080425.4:c.2654del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080426.4:c.683del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Progressive osseous heteroplasia (POH)
Synonyms:
ECTOPIC OSSIFICATION, FAMILIAL; Osseus Heteroplasia, Progressive
Identifiers:
MONDO: MONDO:0008153; MedGen: C0334041; Orphanet: 2762; OMIM: 166350; Human Phenotype Ontology: HP:0025027

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037555OMIM
no assertion criteria provided
Pathogenic
(Jul 15, 2008) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM.

Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287-90.

PubMed [citation]
PMID:
2122458
PMCID:
PMC54940

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.

Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ.

Am J Med Genet A. 2008 Jul 15;146A(14):1788-96. doi: 10.1002/ajmg.a.32346.

PubMed [citation]
PMID:
18553568
PMCID:
PMC2564798

Details of each submission

From OMIM, SCV000037555.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a mother with PPHP (612463) and her daughter with PHP1A (103580), Weinstein et al. (1990) identified a heterozygous 1-bp deletion (G) in exon 10 of the GNAS gene, resulting in a frameshift.

Adegbite et al. (2008) identified the same deletion (725delC) in an unaffected carrier father and in 3 of his 5 children with progressive osseous heteroplasia (POH; 166350). The 3 children exhibited varying degrees of severity based on the extent of the heterotropic ossification lesions and resultant functional impairment.

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

Last Updated: May 27, 2023