NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive

Clinical significance:Uncertain significance (Last evaluated: Oct 28, 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:
RCV001277577.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)]

NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)

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.8569G>A (p.Glu2857Lys)
HGVS:
  • NC_000003.12:g.48565160C>T
  • NG_007065.1:g.35093G>A
  • NM_000094.4:c.8569G>AMANE SELECT
  • NP_000085.1:p.Glu2857Lys
  • LRG_286:g.35093G>A
  • NC_000003.11:g.48602593C>T
Protein change:
E2857K
Molecular consequence:
  • NM_000094.4:c.8569G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001464537Natera, Inc.no assertion criteria providedUncertain significance
(Oct 28, 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., SCV001464537.1

#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: Jan 2, 2021

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