NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) AND Merosin deficient congenital muscular dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 29, 2024
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:: RCV000984278.3

Allele description [Variation Report for NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)]

NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)

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.939_940del (p.Cys314fs)

HGVS:

NC_000006.12:g.129149008_129149009del
NG_008678.1:g.270868_270869del
NM_000426.4:c.939_940delMANE SELECT
NM_001079823.2:c.939_940del
NP_000417.2:p.Cys314fs
NP_000417.3:p.Cys314fs
NP_001073291.2:p.Cys314fs
LRG_409t1:c.939_940del
LRG_409:g.270868_270869del
LRG_409p1:p.Cys314fs
NC_000006.11:g.129470153_129470154del
NM_000426.3:c.939_940del
NM_000426.3:c.939_940delAT
NM_000426.4:c.939_940delATMANE SELECT

Protein change:

C314fs

Links:

dbSNP: rs1209130981

NCBI 1000 Genomes Browser:

rs1209130981

Molecular consequence:

NM_000426.4:c.939_940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079823.2:c.939_940del - 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
SCV001132422	Counsyl	no assertion criteria provided	Likely pathogenic (Mar 22, 2017)	unknown	clinical testing
SCV004190461	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 29, 2024)	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

SCV001132422

Counsyl

no assertion criteria provided

Likely pathogenic
(Mar 22, 2017)

unknown

clinical testing

SCV004190461

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 29, 2024)

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 Counsyl, SCV001132422.1

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

#	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

From Baylor Genetics, SCV004190461.2

#	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: Nov 24, 2024

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