NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs) AND Junctional epidermolysis bullosa gravis of Herlitz

Clinical significance:Likely pathogenic (Last evaluated: Apr 11, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673854.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs)]

NM_198129.4(LAMA3):c.8664_8673dup (p.Phe2892fs)

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.8664_8673dup (p.Phe2892fs)
HGVS:
  • NC_000018.10:g.23932247_23932256dup
  • NG_007853.2:g.247650_247659dup
  • NM_000227.6:c.3837_3846dup
  • NM_001127717.4:c.8496_8505dup
  • NM_001127718.4:c.3669_3678dup
  • NM_198129.4:c.8664_8673dupMANE SELECT
  • NP_000218.3:p.Phe1283fs
  • NP_001121189.2:p.Phe2836fs
  • NP_001121190.2:p.Phe1227fs
  • NP_937762.2:p.Phe2892fs
  • NC_000018.9:g.21512211_21512220dup
  • NM_000227.3:c.3837_3846dup10
Protein change:
F1227fs
Links:
dbSNP: rs1555745263
NCBI 1000 Genomes Browser:
rs1555745263
Molecular consequence:
  • NM_000227.6:c.3837_3846dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127717.4:c.8496_8505dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127718.4:c.3669_3678dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198129.4:c.8664_8673dup - 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
SCV000799102Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 11, 2018)
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, SCV000799102.1

#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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