NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) AND Legius syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2007)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001885.3

Allele description [Variation Report for NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)]

NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)

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.643C>T (p.Gln215Ter)
HGVS:
  • NC_000015.10:g.38349482C>T
  • NG_008980.1:g.101632C>T
  • NM_152594.3:c.643C>TMANE SELECT
  • NP_689807.1:p.Gln215Ter
  • NC_000015.9:g.38641683C>T
Protein change:
Q215*; GLN215TER
Links:
OMIM: 609291.0004; dbSNP: rs121434314
NCBI 1000 Genomes Browser:
rs121434314
Molecular consequence:
  • NM_152594.3:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000022041OMIMno assertion criteria providedPathogenic
(Sep 1, 2007)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.

Nat Genet. 2007 Sep;39(9):1120-6. Epub 2007 Aug 19.

PubMed [citation]
PMID:
17704776

Details of each submission

From OMIM, SCV000022041.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a family with Legius syndrome (LGSS; 611431), Brems et al. (2007) identified a heterozygous 643C-T transition in exon 7 of the SPRED1 gene, resulting in a gln215-to-ter (Q215X) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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