NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) AND Legius syndrome

Clinical significance:Likely pathogenic (Last evaluated: Nov 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000660294.1

Allele description [Variation Report for NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs)]

NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs)

Gene:
SPRED1:sprouty related EVH1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs)
HGVS:
  • NC_000015.10:g.38351209_38351210dup
  • NG_008980.1:g.103359_103360dup
  • NM_152594.3:c.880_881dupMANE SELECT
  • NP_689807.1:p.Ser295fs
  • NC_000015.9:g.38643410_38643411dup
  • NM_152594.2:c.880_881dupTA
Protein change:
S295fs
Links:
dbSNP: rs1555392750
NCBI 1000 Genomes Browser:
rs1555392750
Molecular consequence:
  • NM_152594.3:c.880_881dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000782326Center for Human Genetics, Inc,Center for Human Genetics, Inccriteria provided, single submitter
Likely pathogenic
(Nov 1, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Human Genetics, Inc,Center for Human Genetics, Inc, SCV000782326.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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