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NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs) AND Epidermolysis bullosa dystrophica

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 2019
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:
RCV001352800.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)]

NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs)
HGVS:
  • NC_000003.12:g.48587867_48587868GT[2]CGT[1]
  • NG_007065.1:g.12386_12387insGACAC
  • NM_000094.4:c.2783_2784insGACACMANE SELECT
  • NP_000085.1:p.Gln929fs
  • NP_000085.1:p.Thr928_Gln929=
  • LRG_286t1:c.2782_2783AC[2]
  • LRG_286:g.12386_12387insGACAC
  • LRG_286p1:p.Thr928_Gln929=
  • NC_000003.11:g.48625299_48625300insGTGTC
  • NC_000003.11:g.48625300_48625301GT[2]CGT[1]
  • NM_000094.3:c.2782_2783AC[2]
  • p.Gln929Aspfs*6
Protein change:
Q929fs
Links:
dbSNP: rs2045388619
NCBI 1000 Genomes Browser:
rs2045388619
Molecular consequence:
  • NM_000094.4:c.2783_2784insGACAC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epidermolysis bullosa dystrophica
Synonyms:
Dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly); Dystrophic epidermolysis bullosa
Identifiers:
MONDO: MONDO:0006543; MedGen: C0079294

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547295Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 14, 2019) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedresearch

Citations

PubMed

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.

Saeidian AH, Youssefian L, Moreno Trevino MG, Fortuna G, Vahidnezhad H, Atanasova VS, Uitto J, Salas-Alanis JC, South AP.

Clin Exp Dermatol. 2018 Jul;43(5):579-584. doi: 10.1111/ced.13407. Epub 2018 Feb 23.

PubMed [citation]
PMID:
29473190

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, SCV001547295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Nov 24, 2024