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NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) AND Merosin deficient congenital muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001269412.1

Allele description [Variation Report for NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)]

NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)

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.2217G>A (p.Trp739Ter)
HGVS:
  • NC_000006.12:g.129267114G>A
  • NG_008678.1:g.388974G>A
  • NM_000426.4:c.2217G>AMANE SELECT
  • NM_001079823.2:c.2217G>A
  • NP_000417.3:p.Trp739Ter
  • NP_001073291.2:p.Trp739Ter
  • LRG_409t1:c.2217G>A
  • LRG_409:g.388974G>A
  • NC_000006.11:g.129588259G>A
  • NM_000426.3:c.2217G>A
Protein change:
W739*
Links:
dbSNP: rs192317605
NCBI 1000 Genomes Browser:
rs192317605
Molecular consequence:
  • NM_000426.4:c.2217G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079823.2:c.2217G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001448189Department of Medical Genetics, National Institute of Health
no assertion criteria provided
Pathogenic
(Nov 22, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genetics, National Institute of Health, SCV001448189.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
21not providednot providedclinical testingnot provided

Description

The variant was identified at homozygous state by Targeted next-generation sequencing of muscular dystrophies gene panel. It was confirmed by Sanger sequencing. Both parents present the variant at heterozygous state. This variant has never been reported in public human databases (accessed, Nov 2020) It was also not found in an in-house database of 100 Moroccan exomes (personal data). This variant is in agreement with the clinical data of a patient who presents a severe phenotype of MDC1A.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 16, 2024