NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) AND Junctional epidermolysis bullosa gravis of Herlitz

Clinical significance:Likely pathogenic (Last evaluated: Nov 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411334.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)]

NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)

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.8203C>T (p.Arg2735Ter)
HGVS:
  • NC_000018.10:g.23928148C>T
  • NG_007853.2:g.243551C>T
  • NM_000227.6:c.3376C>T
  • NM_001127717.4:c.8035C>T
  • NM_001127718.4:c.3208C>T
  • NM_198129.4:c.8203C>TMANE SELECT
  • NP_000218.3:p.Arg1126Ter
  • NP_001121189.2:p.Arg2679Ter
  • NP_001121190.2:p.Arg1070Ter
  • NP_937762.2:p.Arg2735Ter
  • NC_000018.9:g.21508112C>T
  • NM_000227.3:c.3376C>T
Protein change:
R1070*
Links:
dbSNP: rs774133746
NCBI 1000 Genomes Browser:
rs774133746
Molecular consequence:
  • NM_000227.6:c.3376C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127717.4:c.8035C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127718.4:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.8203C>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485275Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 3, 2016)
unknownclinical testing

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

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.

Yuen WY, Pasmooij AM, Stellingsma C, Jonkman MF.

Acta Derm Venereol. 2012 Nov;92(6):695-6. doi: 10.2340/00015555-1341. No abstract available.

PubMed [citation]
PMID:
22434185

Details of each submission

From Counsyl, SCV000485275.1

#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: Nov 27, 2021

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