NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr) 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:: RCV000007385.5

Allele description [Variation Report for NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)]

NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.12

Genomic location:

Preferred name:

NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)

HGVS:

NC_000008.11:g.118933071C>T
NG_012202.1:g.24074G>A
NM_002546.4:c.260G>AMANE SELECT
NP_002537.3:p.Cys87Tyr
NC_000008.10:g.119945310C>T

Protein change:

C87Y; CYS87TYR

Links:

OMIM: 602643.0003; dbSNP: rs104894091

NCBI 1000 Genomes Browser:

rs104894091

Molecular consequence:

NM_002546.4:c.260G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000027584	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027584

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2003)

germline

literature only

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

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

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, SCV000027584.4

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

Description

In an 18-year-old Argentinian man with juvenile Paget disease (PDB5; 239000), Chong et al. (2003) identified homozygosity for a 354G-A transition in exon 2 of the TNFRSF11B gene, resulting in a cys87-to-tyr (C87Y) substitution in the ligand-binding region. The patient had a severe phenotype that presented before the age of 15 months and limited the development of walking, and he was hearing impaired. Radiographs at age 6 showed marked bony disorganization and deformity.

#	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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