NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) AND Osteoporosis with pseudoglioma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2001
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:: RCV000006650.4

Allele description [Variation Report for NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)]

NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)

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.2557C>T (p.Gln853Ter)

HGVS:

NC_000011.10:g.68413742C>T
NG_015835.1:g.106103C>T
NG_015835.2:g.106103C>T
NM_001291902.2:c.814C>T
NM_002335.4:c.2557C>TMANE SELECT
NP_001278831.1:p.Gln272Ter
NP_002326.2:p.Gln853Ter
NC_000011.9:g.68181210C>T

Protein change:

Q272*; GLN853TER

Links:

OMIM: 603506.0005; dbSNP: rs121908663

NCBI 1000 Genomes Browser:

rs121908663

Molecular consequence:

NM_001291902.2:c.814C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_002335.4:c.2557C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Osteoporosis with pseudoglioma (OPPG)
Synonyms:: Osteogenesis imperfecta ocular form; Pseudoglioma with bone fragility
Identifiers:: MONDO: MONDO:0009820; MedGen: C0432252; Orphanet: 2788; OMIM: 259770

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Gene ID:122934556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026833	OMIM	no assertion criteria provided	Pathogenic (Nov 16, 2001)	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

SCV000026833

OMIM

no assertion criteria provided

Pathogenic
(Nov 16, 2001)

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

Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, et al.

Cell. 2001 Nov 16;107(4):513-23.

PubMed [citation]

PMID:: 11719191

Details of each submission

From OMIM, SCV000026833.3

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

Description

In a patient with osteoporosis-pseudoglioma syndrome (OPPG; 259770), Gong et al. (2001) identified a homozygous C-to-T transition at nucleotide 2557 of the LRP5 gene, resulting in a gln853-to-ter (Q853X) nonsense mutation.

#	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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