NM_001711.6(BGN):c.776G>T (p.Gly259Val) AND X-linked spondyloepimetaphyseal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 2016
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:: RCV000235501.2

Allele description [Variation Report for NM_001711.6(BGN):c.776G>T (p.Gly259Val)]

NM_001711.6(BGN):c.776G>T (p.Gly259Val)

Gene:

BGN:biglycan [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001711.6(BGN):c.776G>T (p.Gly259Val)

HGVS:

NC_000023.11:g.153507052G>T
NG_015961.1:g.17100G>T
NM_001711.6:c.776G>TMANE SELECT
NP_001702.1:p.Gly259Val
NC_000023.10:g.152772510G>T
NM_001711.4:c.776G>T
NM_001711.5:c.776G>T
P21810:p.Gly259Val

Protein change:

G259V; GLY259VAL

Links:

UniProtKB: P21810#VAR_076591; OMIM: 301870.0002; dbSNP: rs879255605

NCBI 1000 Genomes Browser:

rs879255605

Molecular consequence:

NM_001711.6:c.776G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: X-linked spondyloepimetaphyseal dysplasia
Synonyms:: SEMD X-linked; Spondylo-epimetaphyseal dysplasia
Identifiers:: MONDO: MONDO:0010248; MedGen: C1848097; OMIM: 300106

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292438	OMIM	no assertion criteria provided	Pathogenic (Jul 20, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8064814, 27236923

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292438

OMIM

no assertion criteria provided

Pathogenic
(Jul 20, 2016)

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

New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

Camera G, Stella G, Camera A.

J Med Genet. 1994 May;31(5):371-6.

PubMed [citation]

PMID:: 8064814
PMCID:: PMC1049868

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK.

Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26.

PubMed [citation]

PMID:: 27236923
PMCID:: PMC4908150

Details of each submission

From OMIM, SCV000292438.1

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

Description

In 3 affected members of a large Italian family with X-linked spondyloepimetaphyseal dysplasia (SEMDX; 300106), originally described by Camera et al. (1994), Cho et al. (2016) identified a c.776G-T transversion (c.776G-T, NM_001711.4) in the BGN gene, resulting in a gly259-to-val (G259V) substitution at a conserved residue within a leucine-rich repeat domain. The mutation segregated fully with disease in the family and was not found in 904 Korean or 800 Japanese control chromosomes or in the ExAC database.

#	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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