U.S. flag

An official website of the United States government

NM_000227.6(LAMA3):c.69del (p.Gln24fs) AND Junctional epidermolysis bullosa

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 12, 2022
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:
RCV002510334.1

Allele description [Variation Report for NM_000227.6(LAMA3):c.69del (p.Gln24fs)]

NM_000227.6(LAMA3):c.69del (p.Gln24fs)

Genes:
LOC126862707:MED14-independent group 3 enhancer GRCh37_chr18:21452354-21453553 [Gene]
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000227.6(LAMA3):c.69del (p.Gln24fs)
HGVS:
  • NC_000018.10:g.23873113del
  • NG_007853.2:g.188516del
  • NG_087204.1:g.824del
  • NM_000227.6:c.69del
  • NM_001127717.4:c.4998+1452del
  • NM_001127718.4:c.69del
  • NM_198129.4:c.4998+1452delMANE SELECT
  • NP_000218.3:p.Gln24fs
  • NP_001121190.2:p.Gln24fs
  • NC_000018.9:g.21453074del
  • NC_000018.9:g.21453077del
  • NM_000227.4:c.69delG
Protein change:
Q24fs
Molecular consequence:
  • NM_000227.6:c.69del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127718.4:c.69del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127717.4:c.4998+1452del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198129.4:c.4998+1452del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Junctional epidermolysis bullosa
Identifiers:
MONDO: MONDO:0017612; MedGen: C0079301; OMIM: PS226650

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002819456Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Dec 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002819456.1

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

Description

Variant summary: LAMA3 c.69delG (p.Gln24SerfsX116) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251490 control chromosomes. To our knowledge, no occurrence of c.69delG in individuals affected with Junctional Epidermolysis Bullosa and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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

Last Updated: Sep 29, 2024