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NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter) AND Junctional epidermolysis bullosa gravis of Herlitz

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001290301.1

Allele description [Variation Report for NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter)]

NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter)

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.2188C>T (p.Gln730Ter)
HGVS:
  • NC_000001.11:g.209623675G>A
  • NG_007116.1:g.33801C>T
  • NM_000228.3:c.2188C>TMANE SELECT
  • NM_001017402.2:c.2188C>T
  • NM_001127641.1:c.2188C>T
  • NP_000219.2:p.Gln730Ter
  • NP_001017402.1:p.Gln730Ter
  • NP_001121113.1:p.Gln730Ter
  • NC_000001.10:g.209797020G>A
Protein change:
Q730*
Links:
dbSNP: rs1350303547
NCBI 1000 Genomes Browser:
rs1350303547
Molecular consequence:
  • NM_000228.3:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001017402.2:c.2188C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127641.1:c.2188C>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001430919Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University
no assertion criteria provided
Pathogenic
(Aug 18, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesegermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Limin Genodermatosis Research Center, The First Affiliated Hospital of Soochow University, SCV001430919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinesenot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024