NM_000094.4(COL7A1):c.5532+1G>A AND Epidermolysis bullosa pruriginosa, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1999
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:: RCV000018990.23

Allele description [Variation Report for NM_000094.4(COL7A1):c.5532+1G>A]

NM_000094.4(COL7A1):c.5532+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_000094.4(COL7A1):c.5532+1G>A

Other names:

IVS64+1G>A

HGVS:

NC_000003.12:g.48578320C>T
NG_007065.1:g.21933G>A
NM_000094.4:c.5532+1G>AMANE SELECT
LRG_286t1:c.5532+1G>A
LRG_286:g.21933G>A
NC_000003.11:g.48615753C>T
NM_000094.3:c.5532+1G>A

Nucleotide change:

IVS64DS, G-A, +1

Links:

OMIM: 120120.0018; dbSNP: rs767182886

NCBI 1000 Genomes Browser:

rs767182886

Molecular consequence:

NM_000094.4:c.5532+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Epidermolysis bullosa pruriginosa, autosomal recessive
Identifiers:: MedGen: C1853063

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039277	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1999)	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

SCV000039277

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1999)

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

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

Mellerio JE, Ashton GH, Mohammedi R, Lyon CC, Kirby B, Harman KE, Salas-Alanis JC, Atherton DJ, Harrison PV, Griffiths WA, Black MM, Eady RA, McGrath JA.

J Invest Dermatol. 1999 Jun;112(6):984-7.

PubMed [citation]

PMID:: 10383749

Details of each submission

From OMIM, SCV000039277.1

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

Description

In a 13-year-old Caucasian girl with epidermolysis bullosa pruriginosa (604129), Mellerio et al. (1999) found compound heterozygosity for 2 mutations in the COL7A1 gene: a splice site mutation (5532+1G-A) in intron 64, and a 1-basepair deletion in exon 104 (7786delG; 120120.0019). She had widespread linear prurigo lesions on her limbs, skin fragility, pruritus, and nail involvement all starting in infancy. There was no family history of skin disease.

#	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: Sep 29, 2024

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