NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001699199.2

Allele description [Variation Report for NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)]

NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser)

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.4750G>A (p.Gly1584Ser)
HGVS:
  • NC_000006.12:g.129366251G>A
  • NG_008678.1:g.488111G>A
  • NM_000426.4:c.4750G>AMANE SELECT
  • NM_001079823.2:c.4750G>A
  • NP_000417.2:p.Gly1584Ser
  • NP_000417.3:p.Gly1584Ser
  • NP_001073291.2:p.Gly1584Ser
  • LRG_409t1:c.4750G>A
  • LRG_409:g.488111G>A
  • LRG_409p1:p.Gly1584Ser
  • NC_000006.11:g.129687396G>A
  • NM_000426.3:c.4750G>A
Protein change:
G1584S
Links:
dbSNP: rs117781224
NCBI 1000 Genomes Browser:
rs117781224
Molecular consequence:
  • NM_000426.4:c.4750G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079823.2:c.4750G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001923800Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001952016Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001923800.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001952016.1

#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: Nov 27, 2021

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