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NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu) AND Generalized dominant dystrophic epidermolysis bullosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 24, 1998
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:
RCV000019000.28

Allele description [Variation Report for NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)]

NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)

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.6044G>A (p.Gly2015Glu)
HGVS:
  • NC_000003.12:g.48575475C>T
  • NG_007065.1:g.24778G>A
  • NM_000094.4:c.6044G>AMANE SELECT
  • NP_000085.1:p.Gly2015Glu
  • NP_000085.1:p.Gly2015Glu
  • LRG_286t1:c.6044G>A
  • LRG_286:g.24778G>A
  • LRG_286p1:p.Gly2015Glu
  • NC_000003.11:g.48612908C>T
  • NM_000094.3:c.6044G>A
  • Q02388:p.Gly2015Glu
Protein change:
G2015E; GLY2015GLU
Links:
UniProtKB: Q02388#VAR_011174; OMIM: 120120.0027; dbSNP: rs121912843
NCBI 1000 Genomes Browser:
rs121912843
Molecular consequence:
  • NM_000094.4:c.6044G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Generalized dominant dystrophic epidermolysis bullosa (DDEB)
Synonyms:
DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007549; MedGen: C0432322; Orphanet: 231568; OMIM: 131750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039287OMIM
no assertion criteria provided
Pathogenic
(Jul 24, 1998) 		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

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L.

J Biol Chem. 1998 Jul 24;273(30):19228-34.

PubMed [citation]
PMID:
9668111

Details of each submission

From OMIM, SCV000039287.2

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

Description

In affected members of a large family with dominant dystrophic epidermolysis bullosa (131750), Hammami-Hauasli et al. (1998) found a 6044G-A transition in exon 73 of the COL7A1 gene, resulting in a gly2015-to-glu (G2015E) substitution. Specific details of the phenotype were not provided.

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

Last Updated: Jun 29, 2024