U.S. flag

An official website of the United States government

NM_014319.5(LEMD3):c.1035dup (p.Cys346fs) AND Dermatofibrosis lenticularis disseminata

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2004
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:
RCV000002879.3

Allele description [Variation Report for NM_014319.5(LEMD3):c.1035dup (p.Cys346fs)]

NM_014319.5(LEMD3):c.1035dup (p.Cys346fs)

Gene:
LEMD3:LEM domain containing 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q14.3
Genomic location:
Preferred name:
NM_014319.5(LEMD3):c.1035dup (p.Cys346fs)
HGVS:
  • NC_000012.12:g.65170631dup
  • NG_016210.2:g.6061dup
  • NM_001167614.2:c.1035dup
  • NM_014319.5:c.1035dupMANE SELECT
  • NP_001161086.1:p.Cys346fs
  • NP_055134.2:p.Cys346fs
  • NC_000012.11:g.65564411dup
  • NM_014319.5:c.1033dupMANE SELECT
Nucleotide change:
1-BP DUP, 1185T
Protein change:
C346fs
Links:
OMIM: 607844.0003; dbSNP: rs2136313349
NCBI 1000 Genomes Browser:
rs2136313349
Molecular consequence:
  • NM_001167614.2:c.1035dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014319.5:c.1035dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dermatofibrosis lenticularis disseminata (BOS)
Synonyms:
Dermatoosteopoikilosis; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008157; MedGen: C0265514; Orphanet: 1306; OMIM: 166700

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023037OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR.

Nat Genet. 2004 Nov;36(11):1213-8. Epub 2004 Oct 17.

PubMed [citation]
PMID:
15489854

Details of each submission

From OMIM, SCV000023037.2

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

Description

In a 3-generation British family with osteopoikilosis and skin lesions reminiscent of Buschke-Ollendorff syndrome (166700), Hellemans et al. (2004) found a duplication of 1 basepair, 1185dupT, in the LEMD3 gene. Luciferase assays demonstrated a loss-of-function effect.

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

Last Updated: Dec 24, 2023