NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del) AND Hyperphosphatasemia with bone disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2003
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:: RCV000007384.5

Allele description [Variation Report for NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)]

NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)

Gene:

TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q24.12

Genomic location:

Preferred name:

NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)

HGVS:

NC_000008.11:g.118928786_118928788del
NG_012202.1:g.28359_28361del
NM_002546.4:c.544_546delMANE SELECT
NP_002537.3:p.Asp182del
NC_000008.10:g.119941025_119941027del
NM_002546.3:c.544_546del

Note:

NCBI staff reviewed the sequence information reported in PubMed 12189164 Fig. 4A to determine the location of this deletion on the current reference sequence.

Protein change:

D182del

Links:

OMIM: 602643.0002; dbSNP: rs796051868

NCBI 1000 Genomes Browser:

rs796051868

Molecular consequence:

NM_002546.4:c.544_546del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Hyperphosphatasemia with bone disease (PDB5)
Synonyms:: Hyperostosis corticalis deformans juvenilis; Hyperphosphatasia, familial idiopathic; Hyperphosphatasemia, chronic congenital idiopathic; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009394; MedGen: C0268414; Orphanet: 2801; OMIM: 239000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027583	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12189164, 14672344

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027583

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J.

Hum Mol Genet. 2002 Sep 1;11(18):2119-27.

PubMed [citation]

PMID:: 12189164

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group..

J Bone Miner Res. 2003 Dec;18(12):2095-104.

PubMed [citation]

PMID:: 14672344

Details of each submission

From OMIM, SCV000027583.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In all 3 sibs with idiopathic hyperphosphatasia (PDB5; 239000) from a consanguineous family of Iraqi origin, Cundy et al. (2002) identified homozygosity for a 3-bp GAC in-frame deletion in exon 3 of the TNFRSF11B gene, resulting in the loss of conserved aspartate-182.

In the 3 Iraqi sibs previously reported by Cundy et al. (2002), Chong et al. (2003) noted that the 3-bp deletion was associated with an intermediate phenotype in which walking was not delayed and deformity was recognized around age 5. Radiographs showed gross widening of the diaphyses with cortical thickening, particularly on the medial aspect of the femur. All 3 sibs were hearing impaired.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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