NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) AND Schimke immuno-osseous dysplasia

Clinical significance:Likely pathogenic (Last evaluated: Sep 18, 2017)

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:
RCV000625629.1

Allele description [Variation Report for NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)]

NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)

Gene:
SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)
HGVS:
  • NC_000002.12:g.216432767_216432772dup
  • NG_009771.1:g.25354_25359dup
  • NM_001127207.2:c.1384_1389dup
  • NM_014140.3:c.1384_1389dup
  • NP_001120679.1:p.Leu462_Gly463dup
  • NP_054859.2:p.Leu462_Gly463dup
  • LRG_108t1:c.1384_1389dup
  • LRG_108:g.25354_25359dup
  • LRG_108p1:p.Leu462_Gly463dup
  • NC_000002.11:g.217297490_217297495dup
  • NM_014140.3:c.1384_1389dupCTGGGG
Links:
dbSNP: rs1553526162
NCBI 1000 Genomes Browser:
rs1553526162
Molecular consequence:
  • NM_001127207.2:c.1384_1389dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_014140.3:c.1384_1389dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Schimke immuno-osseous dysplasia (SIOD)
Synonyms:
Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Schimke immunoosseous dysplasia
Identifiers:
MONDO: MONDO:0009458; MedGen: C0877024; Orphanet: 1830; OMIM: 242900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746130Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedLikely pathogenic
(Sep 18, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000746130.1

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

Last Updated: Oct 7, 2021

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