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NC_000006.11:g.(?_129204381)_(129837502_?)del AND LAMA2-related muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 2, 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:
RCV001389113.2

Allele description [Variation Report for NC_000006.11:g.(?_129204381)_(129837502_?)del]

NC_000006.11:g.(?_129204381)_(129837502_?)del

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q22.33
Genomic location:
Chr6: 129204381 - 129837502 (on Assembly GRCh37)
Preferred name:
NC_000006.11:g.(?_129204381)_(129837502_?)del
HGVS:
NC_000006.11:g.(?_129204381)_(129837502_?)del

Condition(s)

Name:
LAMA2-related muscular dystrophy (LAMA2-RD)
Synonyms:
Laminin alpha 2-related dystrophy
Identifiers:
MONDO: MONDO:0100228; MedGen: C5679788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001590334Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 2, 2022) 		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

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

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, Comi GP.

Acta Myol. 2020 Jun;39(2):67-82. doi: 10.36185/2532-1900-009.

PubMed [citation]
PMID:
32904964
PMCID:
PMC7460730
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001590334.2

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

Description

A gross deletion of the genomic region encompassing the full coding sequence of the LAMA2 gene has been identified. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 4, 2023