NM_000094.4(COL7A1):c.3861del (p.Pro1289fs) AND Recessive dystrophic epidermolysis bullosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1994
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:: RCV000018972.28

Allele description [Variation Report for NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)]

NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)

Gene:

COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_000094.4(COL7A1):c.3861del (p.Pro1289fs)

HGVS:

NC_000003.12:g.48585593del
NG_007065.1:g.14663del
NM_000094.4:c.3861delMANE SELECT
NP_000085.1:p.Pro1289fs
LRG_286:g.14663del
NC_000003.11:g.48623026del
NM_000094.3:c.3861delG

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

P1289fs

Links:

OMIM: 120120.0004; dbSNP: rs1575470363

NCBI 1000 Genomes Browser:

rs1575470363

Molecular consequence:

NM_000094.4:c.3861del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039259	OMIM	no assertion criteria provided	Pathogenic (May 1, 1994)	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

SCV000039259

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1994)

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

Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.

Christiano AM, Anhalt G, Gibbons S, Bauer EA, Uitto J.

Genomics. 1994 May 1;21(1):160-8.

PubMed [citation]

PMID:: 8088783

Details of each submission

From OMIM, SCV000039259.2

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

Description

For discussion of the 1-bp deletion in the COL7A1 gene (3858delG) that was found in compound heterozygous state in a patient with autosomal recessive epidermolysis bullosa dystrophica (226600) by Christiano et al. (1994), see 120120.0003.

#	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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