NM_000094.4(COL7A1):c.6082G>A AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763113.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6082G>A]

NM_000094.4(COL7A1):c.6082G>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.6082G>A
HGVS:
  • NC_000003.12:g.48575437C>T
  • NG_007065.1:g.24816G>A
  • NM_000094.3:c.6082G>A
  • NM_000094.4:c.6082G>AMANE SELECT
  • NP_000085.1:p.Gly2028Arg
  • LRG_286t1:c.6082G>A
  • LRG_286:g.24816G>A
  • LRG_286p1:p.Gly2028Arg
  • NC_000003.11:g.48612870C>T
  • p.Gly2028Arg
Protein change:
G2028R
Links:
dbSNP: rs762162799
NCBI 1000 Genomes Browser:
rs762162799
Molecular consequence:
  • NM_000094.3:c.6082G>A - missense variant - [Sequence Ontology: SO:0001583]

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
Name:
Pretibial epidermolysis bullosa
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL; DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL; Pretibial blistering
Identifiers:
MONDO: MONDO:0007552; MedGen: C0432321; Orphanet: 79410; OMIM: 131850; Human Phenotype Ontology: HP:0012221
Name:
Dominant dystrophic epidermolysis bullosa with absence of skin
Synonyms:
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS; EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
Identifiers:
MONDO: MONDO:0007557; MedGen: C0268371; OMIM: 132000
Name:
Transient bullous dermolysis of the newborn (TBDN)
Synonyms:
Epidermolysis bullosa dystrophica, dominant neonatal form; DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM
Identifiers:
MONDO: MONDO:0007548; MedGen: C1851573; Orphanet: 79411; OMIM: 131705
Name:
Epidermolysis bullosa pruriginosa
Synonyms:
DEB, PRURIGINOSA; DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
Identifiers:
MONDO: MONDO:0011398; MedGen: C1275114; Orphanet: 89843; OMIM: 604129
Name:
Nail disorder, nonsyndromic congenital, 8 (NDNC8)
Synonyms:
TOENAIL DYSTROPHY, ISOLATED
Identifiers:
MONDO: MONDO:0011852; MedGen: C1843761; OMIM: 607523
Name:
Generalized dominant dystrophic epidermolysis bullosa (DDEB)
Synonyms:
DDEB, generalized; DDEB-gen; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007549; MedGen: C0432322; Orphanet: 231568; OMIM: 131750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000893655Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot 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 Fulgent Genetics,Fulgent Genetics, SCV000893655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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