NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) AND Merosin deficient congenital muscular dystrophy

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Dec 7, 2017
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:: RCV000015360.26

Allele description [Variation Report for NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)]

NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

Preferred name:

NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)

Other names:

Q1241*; NM_000426.4(LAMA2):c.3718C>T; p.Gln1240Ter

HGVS:

NC_000006.12:g.129315638C>T
NG_008678.1:g.437498C>T
NM_000426.4:c.3718C>TMANE SELECT
NM_001079823.2:c.3718C>T
NP_000417.2:p.Gln1240Ter
NP_000417.3:p.Gln1240Ter
NP_001073291.2:p.Gln1240Ter
LRG_409t1:c.3718C>T
LRG_409:g.437498C>T
LRG_409p1:p.Gln1240Ter
NC_000006.11:g.129636783C>T
NM_000426.3:c.3718C>T
NP_000417.2:p.Gln1240*

Protein change:

Q1240*; GLN1241TER

Links:

OMIM: 156225.0002; dbSNP: rs121913569

NCBI 1000 Genomes Browser:

rs121913569

Molecular consequence:

NM_000426.4:c.3718C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001079823.2:c.3718C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000035621	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000796119	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 7, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25525159, 7550355 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035621

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1995)

germline

literature only

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

SCV000796119

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Dec 7, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	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

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K, et al.

Nat Genet. 1995 Oct;11(2):216-8.

PubMed [citation]

PMID:: 7550355

Details of each submission

From OMIM, SCV000035621.1

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

Description

In affected members of a nonconsanguineous family with congenital merosin-deficient muscular dystrophy (607855), Helbling-Leclerc et al. (1995) found by SSCP analysis aberrant conformers for exon 24 of the LAMA2 gene. Sequencing of exon 24 revealed a homozygous C-to-T substitution at position 3767 of their cDNA. The mutation caused a change in a CAA codon for glutamine to a TAA stop codon (Q1241X) in domain IVa.

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

From Counsyl, SCV000796119.1

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