NM_000426.3(LAMA2):c.5562+5G>C AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Dec 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000723487.4

Allele description [Variation Report for NM_000426.3(LAMA2):c.5562+5G>C]

NM_000426.3(LAMA2):c.5562+5G>C

Gene:
LAMA2:laminin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_000426.3(LAMA2):c.5562+5G>C
HGVS:
  • NC_000006.12:g.129401345G>C
  • NG_008678.1:g.523205G>C
  • NM_000426.3:c.5562+5G>C
  • NM_001079823.2:c.5562+5G>C
  • LRG_409t1:c.5562+5G>C
  • LRG_409:g.523205G>C
  • NC_000006.11:g.129722490G>C
Links:
dbSNP: rs771046502
NCBI 1000 Genomes Browser:
rs771046502
Molecular consequence:
  • NM_000426.3:c.5562+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079823.2:c.5562+5G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000229892EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 5, 2014)
germlineclinical testing

Citation Link,

SCV001154877CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Dec 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000229892.5

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154877.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jul 10, 2021

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