NM_152594.3(SPRED1):c.*4725A>G AND Legius syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000300491.2

Allele description [Variation Report for NM_152594.3(SPRED1):c.*4725A>G]

NM_152594.3(SPRED1):c.*4725A>G

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.*4725A>G
HGVS:
  • NC_000015.10:g.38356389A>G
  • NG_008980.1:g.108539A>G
  • NM_152594.3:c.*4725A>GMANE SELECT
  • NC_000015.9:g.38648590A>G
  • NM_152594.2:c.*4725A>G
Links:
dbSNP: rs530058944
NCBI 1000 Genomes Browser:
rs530058944
Molecular consequence:
  • NM_152594.3:c.*4725A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Legius syndrome (LGSS)
Synonyms:
Neurofibromatosis type 1 like syndrome
Identifiers:
MONDO: MONDO:0012669; MedGen: C1969623; Orphanet: 137605; OMIM: 611431

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000390840Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000390840.2

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

Last Updated: Nov 27, 2021

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