NM_000094.4(COL7A1):c.5532+1G>A AND Recessive dystrophic epidermolysis bullosa

Clinical significance:Pathogenic (Last evaluated: Mar 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626021.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5532+1G>A]

NM_000094.4(COL7A1):c.5532+1G>A

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.5532+1G>A
Other names:
IVS64+1G>A
HGVS:
  • NC_000003.12:g.48578320C>T
  • NG_007065.1:g.21933G>A
  • NM_000094.3:c.5532+1G>A
  • NM_000094.4:c.5532+1G>AMANE SELECT
  • LRG_286t1:c.5532+1G>A
  • LRG_286:g.21933G>A
  • NC_000003.11:g.48615753C>T
Nucleotide change:
IVS64DS, G-A, +1
Links:
OMIM: 120120.0018; dbSNP: rs767182886
NCBI 1000 Genomes Browser:
rs767182886
Molecular consequence:
  • NM_000094.3:c.5532+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000094.4:c.5532+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746631Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDNcriteria provided, single submitter
Pathogenic
(Mar 7, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ethiopianunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ethiopian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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