NM_000094.4(COL7A1):c.5047C>T AND Epidermolysis bullosa dystrophica inversa, autosomal recessive

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001272357.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5047C>T]

NM_000094.4(COL7A1):c.5047C>T

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.5047C>T
HGVS:
  • NC_000003.12:g.48580586G>A
  • NG_007065.1:g.19667C>T
  • NM_000094.3:c.5047C>T
  • NM_000094.4:c.5047C>TMANE SELECT
  • NP_000085.1:p.Arg1683Ter
  • LRG_286t1:c.5047C>T
  • LRG_286:g.19667C>T
  • LRG_286p1:p.Arg1683Ter
  • NC_000003.11:g.48618019G>A
  • p.Arg1683Term
Protein change:
R1683*
Links:
dbSNP: rs760063197
NCBI 1000 Genomes Browser:
rs760063197
Molecular consequence:
  • NM_000094.3:c.5047C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Identifiers:
MedGen: C2673612

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001454269Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001454269.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 26, 2021

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