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NM_152594.3(SPRED1):c.-156del AND Legius syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000330122.5

Allele description [Variation Report for NM_152594.3(SPRED1):c.-156del]

NM_152594.3(SPRED1):c.-156del

Genes:
LOC130056789:ATAC-STARR-seq lymphoblastoid silent region 6304 [Gene]
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.-156del
HGVS:
  • NC_000015.10:g.38253030del
  • NG_008980.1:g.5180del
  • NM_152594.3:c.-156delMANE SELECT
  • NC_000015.9:g.38545231del
  • NM_152594.2:c.-156delG
Links:
dbSNP: rs531519324
NCBI 1000 Genomes Browser:
rs531519324
Molecular consequence:
  • NM_152594.3:c.-156del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Legius syndrome
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
SCV000390783Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Likely benign
(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 Laboratory Services, Illumina, SCV000390783.2

#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: Sep 1, 2024