NM_000426.4(LAMA2):c.4523+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 12, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000177512.1

Allele description [Variation Report for NM_000426.4(LAMA2):c.4523+1G>A]

NM_000426.4(LAMA2):c.4523+1G>A

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.4523+1G>A
HGVS:
  • NC_000006.12:g.129349385G>A
  • NG_008678.1:g.471245G>A
  • NM_000426.3:c.4523+1G>A
  • NM_000426.4:c.4523+1G>AMANE SELECT
  • NM_001079823.2:c.4523+1G>A
  • LRG_409t1:c.4523+1G>A
  • LRG_409:g.471245G>A
  • NC_000006.11:g.129670530G>A
Links:
dbSNP: rs398123375
NCBI 1000 Genomes Browser:
rs398123375
Molecular consequence:
  • NM_000426.3:c.4523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000426.4:c.4523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001079823.2:c.4523+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000229394EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 12, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000229394.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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