NM_000426.4(LAMA2):c.2502del (p.Cys835fs) AND Merosin deficient congenital muscular dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 19, 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:: RCV004576790.1

Allele description [Variation Report for NM_000426.4(LAMA2):c.2502del (p.Cys835fs)]

NM_000426.4(LAMA2):c.2502del (p.Cys835fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

6q22.33

Genomic location:

Preferred name:

NM_000426.4(LAMA2):c.2502del (p.Cys835fs)

HGVS:

NC_000006.12:g.129280112del
NG_008678.1:g.401972del
NM_000426.4:c.2502delMANE SELECT
NM_001079823.2:c.2502del
NP_000417.2:p.Cys835Alafs
NP_000417.3:p.Cys835fs
NP_001073291.2:p.Cys835fs
LRG_409t1:c.2502del
LRG_409:g.401972del
LRG_409p1:p.Cys835Alafs
NC_000006.11:g.129601257del
NM_000426.3:c.2502delA

Protein change:

C835fs

Molecular consequence:

NM_000426.4:c.2502del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.2502del - 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
SCV005059897	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 19, 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

SCV005059897

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 19, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Baylor Genetics, SCV005059897.1

#	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: Jun 17, 2024

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