NM_198129.4(LAMA3):c.8177+2T>G AND Junctional epidermolysis bullosa gravis of Herlitz

Clinical significance:Likely pathogenic (Last evaluated: Jan 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169576.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.8177+2T>G]

NM_198129.4(LAMA3):c.8177+2T>G

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.8177+2T>G
HGVS:
  • NC_000018.10:g.23921587T>G
  • NG_007853.2:g.236990T>G
  • NM_000227.6:c.3350+2T>G
  • NM_001127717.4:c.8009+2T>G
  • NM_001127718.4:c.3182+2T>G
  • NM_198129.4:c.8177+2T>GMANE SELECT
  • NC_000018.9:g.21501551T>G
  • NM_000227.3:c.3350+2T>G
Links:
dbSNP: rs786204732
NCBI 1000 Genomes Browser:
rs786204732
Molecular consequence:
  • NM_000227.6:c.3350+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127717.4:c.8009+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127718.4:c.3182+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198129.4:c.8177+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000221078Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 23, 2015)
unknownliterature only

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J.

Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13.

PubMed [citation]
PMID:
11810295

Details of each submission

From Counsyl, SCV000221078.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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