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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000760150.1

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]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000889959Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 1, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000889959.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 29, 2024