NM_004425.4(ECM1):c.507del (p.Arg171fs) AND Lipid proteinosis

Germline classification:: Pathogenic (2 submissions)
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:: RCV000208549.6

Allele description [Variation Report for NM_004425.4(ECM1):c.507del (p.Arg171fs)]

NM_004425.4(ECM1):c.507del (p.Arg171fs)

Gene:

ECM1:extracellular matrix protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.2

Genomic location:

Preferred name:

NM_004425.4(ECM1):c.507del (p.Arg171fs)

Other names:

NP_004416.2:p.Pro169ProfsTer8

HGVS:

NC_000001.11:g.150510997del
NG_012062.1:g.7987del
NM_001202858.2:c.588del
NM_004425.4:c.507delMANE SELECT
NM_022664.3:c.507del
NP_001189787.1:p.Arg198fs
NP_004416.2:p.Arg171fs
NP_073155.2:p.Arg171fs
NC_000001.10:g.150483473del
NM_004425.3:c.507delT

Protein change:

R171fs

Links:

OMIM: 602201.0004; dbSNP: rs869025565

NCBI 1000 Genomes Browser:

rs869025565

Molecular consequence:

NM_001202858.2:c.588del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004425.4:c.507del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022664.3:c.507del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lipid proteinosis
Synonyms:: Lipoproteinosis; Hyalinosis cutis et mucosae; Lipoid Proteinosis of Urbach and Wiethe; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009530; MedGen: C0023795; Orphanet: 530; OMIM: 247100

Recent activity

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Homo sapiens membrane-associated ring finger (C3HC4) 6, mRNA (cDNA clone IMAGE:6...
Homo sapiens membrane-associated ring finger (C3HC4) 6, mRNA (cDNA clone IMAGE:6170138), with apparent retained intron
gi|84798782|gb|BC111494.1|

Nucleotide
Homo sapiens splicing factor 3b subunit 4 (SF3B4), RefSeqGene on chromosome 1
Homo sapiens splicing factor 3b subunit 4 (SF3B4), RefSeqGene on chromosome 1
gi|2296125259|ref|NG_032777.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028105	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000264328	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 17927570, 17199583, 25529926, 26803878

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028105

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV000264328

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (4)
[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	unknown	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA.

J Invest Dermatol. 2003 Mar;120(3):345-50. Erratum in: J Invest Dermatol. 2004 Oct;123(4):805.

PubMed [citation]

PMID:: 12603844

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA.

Exp Dermatol. 2007 Nov;16(11):881-90. Review.

PubMed [citation]

PMID:: 17927570

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000028105.1

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

Description

In 2 unrelated subjects with lipoid proteinosis (247100) with different ECM1 haplotypes, Hamada et al. (2003) identified a 507delT mutation in exon 6 of the ECM1 gene. The authors suggested that the deletion, which causes a frameshift and premature termination 23 bp downstream, may represent a recurrent mutation in lipoid proteinosis.

#	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, SCV000264328.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

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

Last Updated: Nov 10, 2024

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