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NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2016
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:
RCV000261136.1

Allele description

NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter)

Gene:
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter)
HGVS:
  • NC_000001.11:g.209650023G>A
  • NG_007116.1:g.7453C>T
  • NM_000228.2:c.124C>T
  • NP_000219.2:p.Arg42Ter
  • NC_000001.10:g.209823368G>A
Protein change:
R42*; ARG42TER
Links:
OMIM: 150310.0003; dbSNP: rs80356680
NCBI 1000 Genomes Browser:
rs80356680
Molecular consequence:
  • NM_000228.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329389GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 16, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000329389.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R42X pathogenic variant in the LAMB3 gene has been reported previously (Varki et al 2006, Kivirikko et al. 1996, Mellerio et al,, 1998, McGrath et al., 1995) and is common in the African American JEB population. The R42X variant was not observed in significant numbers in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret R42X as a pathogenic variant.

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

Last Updated: Mar 31, 2019