NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs) AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352800.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)]

NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
HGVS:
  • NC_000003.12:g.48587867_48587868GT[2]CGT[1]
  • NG_007065.1:g.12386_12387insGACAC
  • NM_000094.4:c.2783_2784insGACACMANE SELECT
  • NP_000085.1:p.Gln929fs
  • LRG_286:g.12386_12387insGACAC
  • NC_000003.11:g.48625300_48625301GT[2]CGT[1]
  • p.Gln929Aspfs*6
Protein change:
Q929fs
Molecular consequence:
  • NM_000094.4:c.2783_2784insGACAC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001547295Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Mar 14, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedresearch

Citations

PubMed

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.

Saeidian AH, Youssefian L, Moreno Trevino MG, Fortuna G, Vahidnezhad H, Atanasova VS, Uitto J, Salas-Alanis JC, South AP.

Clin Exp Dermatol. 2018 Jul;43(5):579-584. doi: 10.1111/ced.13407. Epub 2018 Feb 23.

PubMed [citation]
PMID:
29473190

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, SCV001547295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 12, 2021

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