NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 3, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000486702.7

Allele description [Variation Report for NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)]

NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)

Gene:

LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q22.33

Genomic location:

Preferred name:

NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)

HGVS:

NC_000006.12:g.129250183_129250190dup
NG_008678.1:g.372043_372050dup
NM_000426.4:c.1854_1861dupMANE SELECT
NM_001079823.2:c.1854_1861dup
NP_000417.3:p.Leu621fs
NP_001073291.2:p.Leu621fs
LRG_409:g.372043_372050dup
NC_000006.11:g.129571327_129571328insACGTGTTC
NC_000006.11:g.129571328_129571335dup
NM_000426.3:c.1854_1861dupACGTGTTC
NM_000426.4:c.1854_1861dup

Protein change:

L621fs

Links:

dbSNP: rs202247791

NCBI 1000 Genomes Browser:

rs202247791

Molecular consequence:

NM_000426.4:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gene ID:106481476

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000332915	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Jul 8, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11938437, 18700894 Citation Link,
SCV000568535	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 3, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000332915

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Jul 8, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000568535

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 3, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

Allamand V, Guicheney P.

Eur J Hum Genet. 2002 Feb;10(2):91-4.

PubMed [citation]

PMID:: 11938437

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.

Clin Genet. 2008 Dec;74(6):502-12. doi: 10.1111/j.1399-0004.2008.01068.x. Epub 2008 Jun 11.

PubMed [citation]

PMID:: 18700894

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332915.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000568535.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32266982, 31589614, 27858741, 11938437, 18700894, 30055037)

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

Last Updated: Sep 29, 2024

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