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NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000411684.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)]

NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)
HGVS:
  • NC_000001.11:g.209629752G>A
  • NG_007116.1:g.27724C>T
  • NM_000228.3:c.1117C>TMANE SELECT
  • NM_001017402.2:c.1117C>T
  • NM_001127641.1:c.1117C>T
  • NP_000219.2:p.Gln373Ter
  • NP_001017402.1:p.Gln373Ter
  • NP_001121113.1:p.Gln373Ter
  • NC_000001.10:g.209803097G>A
  • NM_000228.2:c.1117C>T
Protein change:
Q373*
Links:
dbSNP: rs1057517096
NCBI 1000 Genomes Browser:
rs1057517096
Molecular consequence:
  • NM_000228.3:c.1117C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001017402.2:c.1117C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127641.1:c.1117C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486741Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Pathogenic
(Aug 2, 2016) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H.

Hum Genet. 2005 Jan;116(1-2):33-42. Epub 2004 Nov 5.

PubMed [citation]
PMID:
15538630

Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.

Saraiya A, Yang CS, Kim J, Bercovitch L, Robinson-Bostom L, Telang G.

J Cutan Pathol. 2015 Aug;42(8):559-63. doi: 10.1111/cup.12521. Epub 2015 Jun 4.

PubMed [citation]
PMID:
25950805

Details of each submission

From Counsyl, SCV000486741.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024