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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2022
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:
RCV000763514.4

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]

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 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
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:
Nonsyndromic congenital nail disorder 8
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
SCV000894318Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 26, 2022)
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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894318.2

#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: May 19, 2024