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NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) AND Junctional epidermolysis bullosa, non-Herlitz type

Germline classification:
Pathogenic (1 submission)
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:
RCV003114525.2

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, non-Herlitz type
Synonyms:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009180; MedGen: C0268374; Orphanet: 251393; Orphanet: 79402; Orphanet: 79405; Orphanet: 89840; OMIM: 226650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003798447Pars Genome Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Pars Genome Lab, SCV003798447.1

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

Last Updated: Sep 29, 2024