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NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) AND Epidermolysis bullosa dystrophica

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 14, 2017
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:
RCV001352764.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)]

NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu)

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.6146G>A (p.Gly2049Glu)
HGVS:
  • NC_000003.12:g.48575373C>T
  • NG_007065.1:g.24880G>A
  • NM_000094.4:c.6146G>AMANE SELECT
  • NP_000085.1:p.Gly2049Glu
  • LRG_286:g.24880G>A
  • NC_000003.11:g.48612806C>T
  • NM_000094.3:c.6146G>A
  • p.Gly2049Glu
Protein change:
G2049E
Links:
dbSNP: rs1410793870
NCBI 1000 Genomes Browser:
rs1410793870
Molecular consequence:
  • NM_000094.4:c.6146G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa dystrophica
Synonyms:
Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
Identifiers:
MONDO: MONDO:0006543; MedGen: C0079294

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547346Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 14, 2017) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.

Am J Hum Genet. 1997 Sep;61(3):599-610.

PubMed [citation]
PMID:
9326325
PMCID:
PMC1715975

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 Biomedical Innovation Departament, CIEMAT, SCV001547346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024