NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs) AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Jun 20, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352771.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)]

NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs)
HGVS:
  • NC_000003.12:g.48575075_48575078del
  • NG_007065.1:g.25176_25179del
  • NM_000094.4:c.6266_6269delMANE SELECT
  • NP_000085.1:p.Pro2089fs
  • LRG_286:g.25176_25179del
  • NC_000003.11:g.48612508_48612511del
  • NM_000094.4:c.6266_6269delCCCCMANE SELECT
  • p.Pro2089Leufs*116
Protein change:
P2089fs
Molecular consequence:
  • NM_000094.4:c.6266_6269del - 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
SCV001547353Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Jun 20, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedresearch

Citations

PubMed

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, et al.

Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22.

PubMed [citation]
PMID:
20184583

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, SCV001547353.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Apr 12, 2021

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