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NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 17, 2024
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:
RCV003709948.2

Allele description [Variation Report for NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter)]

NM_000228.3(LAMB3):c.1552C>T (p.Gln518Ter)

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.1552C>T (p.Gln518Ter)
HGVS:
  • NC_000001.11:g.209626912G>A
  • NG_007116.1:g.30564C>T
  • NM_000228.3:c.1552C>TMANE SELECT
  • NM_001017402.2:c.1552C>T
  • NM_001127641.1:c.1552C>T
  • NP_000219.2:p.Gln518Ter
  • NP_001017402.1:p.Gln518Ter
  • NP_001121113.1:p.Gln518Ter
  • NC_000001.10:g.209800257G>A
Protein change:
Q518*
Molecular consequence:
  • NM_000228.3:c.1552C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001017402.2:c.1552C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127641.1:c.1552C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004475874Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 17, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.

Nakano A, Pfendner E, Hashimoto I, Uitto J.

J Invest Dermatol. 2000 Sep;115(3):493-8.

PubMed [citation]
PMID:
11023379

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Varki R, Sadowski S, Pfendner E, Uitto J.

J Med Genet. 2006 Aug;43(8):641-52. Epub 2006 Feb 10.

PubMed [citation]
PMID:
16473856
PMCID:
PMC2564586
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004475874.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Gln518*) in the LAMB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMB3 are known to be pathogenic (PMID: 11023379, 16473856). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMB3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024