NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) AND Merosin deficient congenital muscular dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 22, 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:: RCV000031898.6

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]

Condition(s)

Name:: Merosin deficient congenital muscular dystrophy (MDC1A)
Synonyms:: Muscular dystrophy congenital, merosin negative; Congenital merosin-deficient muscular dystrophy 1A
Identifiers:: MONDO: MONDO:0011925; MedGen: C1263858; Orphanet: 258; OMIM: 607855

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000054522	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]
SCV004190437	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 22, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000054522

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

SCV004190437

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 22, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

LAMA2 Muscular Dystrophy.

Oliveira J, Parente Freixo J, Santos M, Coelho T.

2012 Jun 7 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 22675738

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneReviews, SCV000054522.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

From Baylor Genetics, SCV004190437.1

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

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

Last Updated: Sep 29, 2024

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