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NM_000228.3(LAMB3):c.1657del (p.Cys553fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 27, 2021
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:
RCV001916737.4

Allele description [Variation Report for NM_000228.3(LAMB3):c.1657del (p.Cys553fs)]

NM_000228.3(LAMB3):c.1657del (p.Cys553fs)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.3(LAMB3):c.1657del (p.Cys553fs)
HGVS:
  • NC_000001.11:g.209625967del
  • NG_007116.1:g.31509del
  • NM_000228.3:c.1657delMANE SELECT
  • NM_001017402.2:c.1657del
  • NM_001127641.1:c.1657del
  • NP_000219.2:p.Cys553fs
  • NP_001017402.1:p.Cys553fs
  • NP_001121113.1:p.Cys553fs
  • NC_000001.10:g.209799312del
Protein change:
C553fs
Links:
dbSNP: rs2102420949
NCBI 1000 Genomes Browser:
rs2102420949
Molecular consequence:
  • NM_000228.3:c.1657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001017402.2:c.1657del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127641.1:c.1657del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002194929Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 27, 2021) 		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, SCV002194929.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with LAMB3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys553Alafs*7) 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).

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

Last Updated: Sep 29, 2024