NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) AND Legius syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2009)

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:
RCV000001889.3

Allele description [Variation Report for NM_152594.3(SPRED1):c.131T>A (p.Val44Asp)]

NM_152594.3(SPRED1):c.131T>A (p.Val44Asp)

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.131T>A (p.Val44Asp)
HGVS:
  • NC_000015.10:g.38299471T>A
  • NG_008980.1:g.51621T>A
  • NM_152594.3:c.131T>AMANE SELECT
  • NP_689807.1:p.Val44Asp
  • NC_000015.9:g.38591672T>A
  • Q7Z699:p.Val44Asp
Protein change:
V44D; VAL44ASP
Links:
UniProtKB: Q7Z699#VAR_064828; OMIM: 609291.0008; dbSNP: rs121434318
NCBI 1000 Genomes Browser:
rs121434318
Molecular consequence:
  • NM_152594.3:c.131T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000022045OMIMno assertion criteria providedPathogenic
(Jul 1, 2009)
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

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.

J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.

PubMed [citation]
PMID:
19443465

Details of each submission

From OMIM, SCV000022045.2

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

Description

In 4 affected members of a 3-generation family with Legius syndrome (LGSS; 611431), Spurlock et al. (2009) identified a heterozygous 131T-A transversion in exon 3 of the SPRED1 gene, resulting in a val44-to-asp (V55D) substitution in a highly conserved residue. All had cafe-au-lait spots, but no neurofibromas. The father had a head circumference in the 90th percentile, but all other family members had a normal head size.

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

Last Updated: Oct 7, 2021

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