NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs) AND Junctional epidermolysis bullosa gravis of Herlitz

Clinical significance:Likely pathogenic (Last evaluated: Feb 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665771.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)]

NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs)
HGVS:
  • NC_000018.10:g.23882020dup
  • NG_007853.2:g.197423dup
  • NM_000227.6:c.370dup
  • NM_001127717.4:c.5197dup
  • NM_001127718.4:c.370dup
  • NM_198129.4:c.5197dupMANE SELECT
  • NP_000218.3:p.Ala124fs
  • NP_001121189.2:p.Ala1733fs
  • NP_001121190.2:p.Ala124fs
  • NP_937762.2:p.Ala1733fs
  • NC_000018.9:g.21461984dup
  • NM_000227.3:c.370dupG
Protein change:
A124fs
Links:
dbSNP: rs1555724066
NCBI 1000 Genomes Browser:
rs1555724066
Molecular consequence:
  • NM_000227.6:c.370dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127717.4:c.5197dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127718.4:c.370dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198129.4:c.5197dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Junctional epidermolysis bullosa gravis of Herlitz
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; JEB-HERLITZ TYPE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009182; MedGen: C0079683; Orphanet: 79404; OMIM: 226700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000789942Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 28, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000789942.1

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

Last Updated: Nov 27, 2021

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