U.S. flag

An official website of the United States government

NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) AND LAMA2-related muscular dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 28, 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:
RCV000824626.8

Allele description [Variation Report for NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)]

NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)

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.2901C>A (p.Cys967Ter)
HGVS:
  • NC_000006.12:g.129297729C>A
  • NG_008678.1:g.419589C>A
  • NM_000426.4:c.2901C>AMANE SELECT
  • NM_001079823.2:c.2901C>A
  • NP_000417.2:p.Cys967Ter
  • NP_000417.3:p.Cys967Ter
  • NP_001073291.2:p.Cys967Ter
  • LRG_409t1:c.2901C>A
  • LRG_409:g.419589C>A
  • LRG_409p1:p.Cys967Ter
  • NC_000006.11:g.129618874C>A
  • NM_000426.3:c.2901C>A
Protein change:
C967*; CYS967TER
Links:
OMIM: 156225.0013; dbSNP: rs121913577
NCBI 1000 Genomes Browser:
rs121913577
Molecular consequence:
  • NM_000426.4:c.2901C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079823.2:c.2901C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
LAMA2-related muscular dystrophy (LAMA2-RD)
Synonyms:
Laminin alpha 2-related dystrophy
Identifiers:
MONDO: MONDO:0100228; MedGen: C5679788

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965531Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 28, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M.

Arch Neurol. 2005 Oct;62(10):1582-6.

PubMed [citation]
PMID:
16216942
See all PubMed Citations (7)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000965531.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

ClinVar contains an entry for this variant (Variation ID: 14301). This premature translational stop signal has been observed in individuals with autosomal recessive congenital muscular dystrophy (PMID: 9541105, 16216942, 30055037, 30147969). This variant is present in population databases (rs121913577, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Cys967*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024