NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000593173.5

Allele description [Variation Report for NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile)]

NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile)

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.8728G>A (p.Val2910Ile)
HGVS:
  • NC_000006.12:g.129507513G>A
  • NG_008678.1:g.629373G>A
  • NM_000426.3:c.8728G>A
  • NM_001079823.2:c.8716G>A
  • NP_000417.2:p.Val2910Ile
  • NP_001073291.2:p.Val2906Ile
  • LRG_409t1:c.8728G>A
  • LRG_409:g.629373G>A
  • LRG_409p1:p.Val2910Ile
  • NC_000006.11:g.129828658G>A
Protein change:
V2906I
Links:
dbSNP: rs141479751
NCBI 1000 Genomes Browser:
rs141479751
Molecular consequence:
  • NM_000426.3:c.8728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079823.2:c.8716G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700577EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 28, 2016)
germlineclinical testing

Citation Link,

SCV001800738Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001818889GeneDxno assertion criteria provided
Likely benign
(Mar 5, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000700577.2

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800738.1

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

From GeneDx, SCV001818889.1

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

Last Updated: Sep 7, 2021

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