NM_000094.4(COL7A1):c.5047C>T AND Dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Dec 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001352848.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5047C>T]

NM_000094.4(COL7A1):c.5047C>T

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.5047C>T
HGVS:
  • NC_000003.12:g.48580586G>A
  • NG_007065.1:g.19667C>T
  • NM_000094.3:c.5047C>T
  • NM_000094.4:c.5047C>TMANE SELECT
  • NP_000085.1:p.Arg1683Ter
  • LRG_286t1:c.5047C>T
  • LRG_286:g.19667C>T
  • LRG_286p1:p.Arg1683Ter
  • NC_000003.11:g.48618019G>A
  • p.Arg1683Term
Protein change:
R1683*
Links:
dbSNP: rs760063197
NCBI 1000 Genomes Browser:
rs760063197
Molecular consequence:
  • NM_000094.3:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001547314Biomedical Innovation Departament, CIEMATcriteria provided, single submitter
Pathogenic
(Dec 22, 2017)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedresearch

Citations

PubMed

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H.

J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28. Erratum in: J Hum Genet. 2006;51(9):839. J Hum Genet. 2006 Sep;51(9):839.

PubMed [citation]
PMID:
16189623

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, SCV001547314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 26, 2021

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