NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg) AND Diaphyseal dysplasia

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 5, 2015
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:: RCV000013359.25

Allele description

NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg)

Gene:

TGFB1:transforming growth factor beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000660.6(TGFB1):c.667T>C (p.Cys223Arg)

HGVS:

NC_000019.10:g.41342215A>G
NG_013364.1:g.16712T>C
NM_000660.6:c.667T>C
NP_000651.3:p.Cys223Arg
NC_000019.9:g.41848120A>G
NM_000660.4:c.667T>C

Protein change:

C223R; CYS223ARG

Links:

OMIM: 190180.0005; dbSNP: rs104894722

NCBI 1000 Genomes Browser:

rs104894722

Molecular consequence:

NM_000660.6:c.667T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Diaphyseal dysplasia (CAEND)
Synonyms:: Camurati-Engelmann Disease
Identifiers:: MedGen: C0011989; Orphanet: 1328; OMIM: 131300; Human Phenotype Ontology: HP:0100252

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033606	OMIM	no assertion criteria provided	Pathogenic (May 15, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000055715	GeneReviews	no assertion criteria provided	Pathogenic (Mar 5, 2015)	germline	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033606

OMIM

no assertion criteria provided

Pathogenic
(May 15, 2004)

germline

literature only

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

SCV000055715

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 5, 2015)

germline

literature only

Citation Link

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura KI.

Am J Med Genet A. 2004 May 15;127A(1):104-107. doi: 10.1002/ajmg.a.20671. No abstract available.

PubMed [citation]

PMID:: 15103729

Details of each submission

From OMIM, SCV000033606.1

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

Description

In affected members of a Japanese family with Camurati-Engelmann disease (131300), Kinoshita et al. (2004) identified a 667T-C transition in exon 4 of the TGFB1 gene, resulting in a cys223-to-arg (C223R) 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

From GeneReviews, SCV000055715.1

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

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

Last Updated: Nov 26, 2018

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