NM_000094.3(COL7A1):c.4119+1G>T AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Sep 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018983.28

Allele description [Variation Report for NM_000094.3(COL7A1):c.4119+1G>T]

NM_000094.3(COL7A1):c.4119+1G>T

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_000094.3(COL7A1):c.4119+1G>T
HGVS:
  • NC_000003.12:g.48584484C>A
  • NG_007065.1:g.15769G>T
  • NM_000094.3:c.4119+1G>T
  • LRG_286t1:c.4119+1G>T
  • LRG_286:g.15769G>T
  • NC_000003.11:g.48621917C>A
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS35DS, G-T, +1
Links:
OMIM: 120120.0013; dbSNP: rs1575467199
NCBI 1000 Genomes Browser:
rs1575467199
Molecular consequence:
  • NM_000094.3:c.4119+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039270OMIMno assertion criteria providedPathogenic
(Sep 1, 1998)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.

Kon A, Pulkkinen L, Ishida-Yamamoto A, Hashimoto I, Uitto J.

J Invest Dermatol. 1998 Sep;111(3):534-7.

PubMed [citation]
PMID:
9740253

Details of each submission

From OMIM, SCV000039270.2

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

Description

In a girl with the severe Hallopeau-Siemens type of recessive epidermolysis bullosa dystrophica (226600), Kon et al. (1998) identified a homozygous 4119+1G-T transversion involving the first nucleotide of intron 35 of the COL7A1 gene. Examination of the sequence of exon 35 indicated that if this mutation resulted in skipping of the entire exon 35, the deletion would be in-frame, resulting in elimination of 24 amino acids from the N-terminal globular domain of type VII collagen. Both unaffected parents were heterozygous for the 4119+1G-T mutation. The mutation created a new restriction enzyme site for MseI. Two fetuses to which prenatal diagnosis was applied were genotypically normal.

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

Last Updated: Oct 7, 2021

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