NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 2017
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:
RCV000671617.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)]

NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer)
HGVS:
  • NC_000018.10:g.23903037AG[1]
  • NG_007853.2:g.218440AG[1]
  • NM_000227.6:c.1405_1406del
  • NM_001127717.4:c.6064_6065del
  • NM_001127718.4:c.1237_1238del
  • NM_198129.4:c.6232_6233delMANE SELECT
  • NP_000218.3:p.Gln468_Ser469insTer
  • NP_001121189.2:p.Gln2021_Ser2022insTer
  • NP_001121190.2:p.Gln412_Ser413insTer
  • NP_937762.2:p.Gln2077_Ser2078insTer
  • NC_000018.9:g.21483001AG[1]
  • NC_000018.9:g.21483001_21483002del
  • NM_000227.3:c.1405_1406delAG
  • NM_000227.4:c.1405_1406delAG
Links:
dbSNP: rs1158945258
NCBI 1000 Genomes Browser:
rs1158945258
Molecular consequence:
  • NM_000227.6:c.1405_1406del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127717.4:c.6064_6065del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127718.4:c.1237_1238del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.6232_6233del - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796605Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(Dec 28, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

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, SCV000796605.1

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

Last Updated: Sep 29, 2024