NM_000094.4(COL7A1):c.3759+2T>G AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352808.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.3759+2T>G]

NM_000094.4(COL7A1):c.3759+2T>G

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.3759+2T>G
HGVS:
  • NC_000003.12:g.48585938A>C
  • NG_007065.1:g.14315T>G
  • NM_000094.4:c.3759+2T>GMANE SELECT
  • LRG_286:g.14315T>G
  • NC_000003.11:g.48623371A>C
Molecular consequence:
  • NM_000094.4:c.3759+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001547303Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Oct 19, 2010)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

Rodríguez FA, Gana MJ, Yubero MJ, Zillmann G, Krämer SM, Catalán J, Rubio-Astudillo J, González S, Liu L, Ozoemena L, Mellerio JE, McGrath JA, Palisson F, Conget P.

J Dermatol Sci. 2012 Feb;65(2):149-52. doi: 10.1016/j.jdermsci.2011.11.010. Epub 2011 Dec 13. No abstract available. Erratum in: J Dermatol Sci. 2012 Apr;66(1):85. Mellerio, Jemima M [corrected to Mellerio, Jemima E].

PubMed [citation]
PMID:
22209565

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, SCV001547303.1

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

Last Updated: Apr 12, 2021

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