NM_000094.4(COL7A1):c.6527dupC AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Mar 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001266180.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.6527dupC]

NM_000094.4(COL7A1):c.6527dupC

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.6527dupC
HGVS:
  • NC_000003.12:g.48573870dup
  • NG_007065.1:g.26388dup
  • NM_000094.3:c.6527dup
  • NM_000094.4:c.6527dupCMANE SELECT
  • NP_000085.1:p.Gly2177fs
  • LRG_286t1:c.6527dup
  • LRG_286:g.26388dup
  • LRG_286p1:p.Gly2177fs
  • NC_000003.11:g.48611303dup
  • NM_000094.3:c.6527dupC
  • p.Gly2177Trpfs*113
Protein change:
G2177fs
Links:
dbSNP: rs768128088
NCBI 1000 Genomes Browser:
rs768128088
Molecular consequence:
  • NM_000094.3:c.6527dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001444352Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 7, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.

Am J Hum Genet. 1997 Sep;61(3):599-610.

PubMed [citation]
PMID:
9326325
PMCID:
PMC1715975

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

Cuadrado-Corrales N, Sánchez-Jimeno C, García M, Escámez MJ, Illera N, Hernández-Martín A, Trujillo-Tiebas MJ, Ayuso C, Del Rio M.

BMC Med Genet. 2010 Sep 29;11:139. doi: 10.1186/1471-2350-11-139.

PubMed [citation]
PMID:
20920254
PMCID:
PMC2957067
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001444352.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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