U.S. flag

An official website of the United States government

NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 3, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000486702.7

Allele description [Variation Report for NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)]

NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
HGVS:
  • NC_000006.12:g.129250183_129250190dup
  • NG_008678.1:g.372043_372050dup
  • NM_000426.4:c.1854_1861dupMANE SELECT
  • NM_001079823.2:c.1854_1861dup
  • NP_000417.3:p.Leu621fs
  • NP_001073291.2:p.Leu621fs
  • LRG_409:g.372043_372050dup
  • NC_000006.11:g.129571327_129571328insACGTGTTC
  • NC_000006.11:g.129571328_129571335dup
  • NM_000426.3:c.1854_1861dupACGTGTTC
  • NM_000426.4:c.1854_1861dup
Protein change:
L621fs
Links:
dbSNP: rs202247791
NCBI 1000 Genomes Browser:
rs202247791
Molecular consequence:
  • NM_000426.4:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079823.2:c.1854_1861dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000332915Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)
Pathogenic
(Jul 8, 2015)
germlineclinical testing

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

Citation Link,

SCV000568535GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Sep 3, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).

Allamand V, Guicheney P.

Eur J Hum Genet. 2002 Feb;10(2):91-4.

PubMed [citation]
PMID:
11938437

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.

Clin Genet. 2008 Dec;74(6):502-12. doi: 10.1111/j.1399-0004.2008.01068.x. Epub 2008 Jun 11.

PubMed [citation]
PMID:
18700894

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332915.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000568535.6

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32266982, 31589614, 27858741, 11938437, 18700894, 30055037)

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

Last Updated: Sep 29, 2024