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NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) AND Pretibial dystrophic epidermolysis bullosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002227156.2

Allele description [Variation Report for NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)]

NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)

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.1732C>T (p.Arg578Ter)
HGVS:
  • NC_000003.12:g.48590721G>A
  • NG_007065.1:g.9532C>T
  • NM_000094.4:c.1732C>TMANE SELECT
  • NP_000085.1:p.Arg578Ter
  • NP_000085.1:p.Arg578Ter
  • LRG_286t1:c.1732C>T
  • LRG_286:g.9532C>T
  • LRG_286p1:p.Arg578Ter
  • NC_000003.11:g.48628154G>A
  • NM_000094.3:c.1732C>T
Protein change:
R578*
Links:
dbSNP: rs144023803
NCBI 1000 Genomes Browser:
rs144023803
Molecular consequence:
  • NM_000094.4:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Pretibial dystrophic epidermolysis bullosa
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL; Pretibial epidermolysis bullosa; Pretibial blistering
Identifiers:
MONDO: MONDO:0007552; MedGen: C0432321; Orphanet: 79410; OMIM: 131850; Human Phenotype Ontology: HP:0012221

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002506429Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 8, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

Dunnill MG, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM.

Hum Mol Genet. 1994 Sep;3(9):1693-4. No abstract available.

PubMed [citation]
PMID:
7833933

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 Institute of Human Genetics, University Hospital Muenster, SCV002506429.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

ACMG categories: PVS1,PM2,PP3,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: May 12, 2024