NM_000426.3(LAMA2):c.2049_2050delAG (p.Arg683Serfs) AND Merosin deficient congenital muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 8, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000031899.2

Allele description [Variation Report for NM_000426.3(LAMA2):c.2049_2050delAG (p.Arg683Serfs)]

NM_000426.3(LAMA2):c.2049_2050delAG (p.Arg683Serfs)

Gene:
LAMA2:laminin, alpha 2 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.3(LAMA2):c.2049_2050delAG (p.Arg683Serfs)
HGVS:
  • NC_000006.12:g.129252248_129252249delAG
  • NG_008678.1:g.374108_374109delAG
  • NM_000426.3:c.2049_2050delAG
  • NP_000417.2:p.Arg683Serfs
  • LRG_409t1:c.2049_2050delAG
  • LRG_409:g.374108_374109delAG
  • LRG_409p1:p.Arg683Serfs
  • NC_000006.11:g.129573393_129573394delAG
  • NM_000426.3:c.2049_2050del
Links:
dbSNP: 202247790
NCBI 1000 Genomes Browser:
rs202247790
Molecular consequence:
  • NM_000426.3:c.2049_2050delAG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
4

Condition(s)

Name:
Merosin deficient congenital muscular dystrophy (MDC1A)
Synonyms:
Muscular dystrophy congenital, merosin negative; Muscular dystrophy, congenital, merosin-deficient 1A; LAMA2-Related Muscular Dystrophy; See all synonyms [MedGen]
Identifiers:
MedGen: C1263858; Orphanet: 258; OMIM: 607855
Age of onset:
Neonatal/infancy
Prevalence:
1-9 / 1 000 000 258

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054523GeneReviewsno assertion criteria providedpathologic
(Jun 7, 2012)
not providedcuration

SCV000226026Emory Genetics Laboratorycriteria provided, single submitter
(EGL Classification Definitions)
Pathogenic
(Nov 8, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K.

J Med Genet. 1998 Mar;35(3):211-7.

PubMed [citation]
PMID:
9541105
PMCID:
PMC1051244

Details of each submission

From GeneReviews, SCV000054523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Emory Genetics Laboratory, SCV000226026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Jul 2, 2015