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NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs) AND Epidermolysis bullosa dystrophica

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 4, 2015
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:
RCV001352850.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)]

NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs)
HGVS:
  • NC_000003.12:g.48579810_48579811insGAGGT
  • NG_007065.1:g.20444_20445insCTCAC
  • NM_000094.4:c.5130_5131insCTCACMANE SELECT
  • NP_000085.1:p.Thr1711fs
  • LRG_286:g.20444_20445insCTCAC
  • NC_000003.11:g.48617243_48617244insGAGGT
  • p.Thr1711Leufs*132
Protein change:
T1711fs
Links:
dbSNP: rs2044604844
NCBI 1000 Genomes Browser:
rs2044604844
Molecular consequence:
  • NM_000094.4:c.5130_5131insCTCAC - 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
SCV001547316Biomedical Innovation Departament, CIEMAT
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 4, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedresearch

Citations

PubMed

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, et al.

Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22.

PubMed [citation]
PMID:
20184583

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, SCV001547316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Jun 5, 2022