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NM_002335.4(LRP5):c.640G>A (p.Ala214Thr) AND Worth disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV000006663.3

Allele description [Variation Report for NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)]

NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)

Gene:
LRP5:LDL receptor related protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)
HGVS:
  • NC_000011.10:g.68357801G>A
  • NG_015835.2:g.50162G>A
  • NM_001291902.2:c.-1126G>A
  • NM_002335.4:c.640G>AMANE SELECT
  • NP_002326.2:p.Ala214Thr
  • NC_000011.9:g.68125269G>A
  • NG_015835.1:g.50162G>A
  • NM_002335.3:c.640G>A
  • O75197:p.Ala214Thr
Protein change:
A214T; ALA214THR
Links:
UniProtKB: O75197#VAR_021810; OMIM: 603506.0016; dbSNP: rs121908671
NCBI 1000 Genomes Browser:
rs121908671
Molecular consequence:
  • NM_001291902.2:c.-1126G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002335.4:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Worth disease
Synonyms:
Osteosclerosis, autosomal dominant; Endosteal hyperostosis, autosomal dominant; Endosteal hyperostosis, Worth type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007764; MedGen: C0432273; OMIM: 144750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026846OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2003) 		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

Endosteal hyperostosis.

Beals RK.

J Bone Joint Surg Am. 1976 Dec;58(8):1172-3. No abstract available.

PubMed [citation]
PMID:
1002767

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W.

Am J Hum Genet. 2003 Mar;72(3):763-71. Epub 2003 Feb 10.

PubMed [citation]
PMID:
12579474
PMCID:
PMC1180253

Details of each submission

From OMIM, SCV000026846.2

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

Description

In a family from Portland, Oregon (kindred C) with autosomal dominant endosteal hyperostosis (144750), originally described by Beals et al. (2001), Van Wesenbeeck et al. (2003) found a 640G-A transition in exon 3 of the LRP5 gene, resulting in an ala214-to-thr (A214T) mutation. A different mutation involving the same codon (A214V; 603506.0017) was identified in another family (kindred E) diagnosed with a similar phenotype of increased bone density.

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

Last Updated: Mar 4, 2023