NM_000227.6(LAMA3):c.69del (p.Gln24fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 21, 2023
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:: RCV003698967.2

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

siah2l seven in absentia homolog 2 (Drosophila)-like [Danio rerio]
siah2l seven in absentia homolog 2 (Drosophila)-like [Danio rerio]
Gene ID:378728

Gene
Gene Links for Nucleotide (Select 22652301) (1)
Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004467904	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 21, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 10366601, 11810295, 12915477, 16473856, 17362460, 22434185, 23869449, 27827380, 28087116, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004467904

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 21, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.

Ryan MC, Lee K, Miyashita Y, Carter WG.

J Cell Biol. 1999 Jun 14;145(6):1309-23.

PubMed [citation]

PMID:: 10366601
PMCID:: PMC2133157

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J.

Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13.

PubMed [citation]

PMID:: 11810295

See all PubMed Citations (10)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004467904.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln24Serfs*116) in the LAMA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA3 are known to be pathogenic (PMID: 10366601, 11810295, 12915477, 16473856, 17362460, 22434185, 23869449, 27827380, 28087116). This variant has not been reported in the literature in individuals affected with LAMA3-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1878281).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine