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NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter) AND Intellectual disability, autosomal dominant 29

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2015
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:
RCV000417091.1

Allele description [Variation Report for NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter)]

NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter)

Gene:
SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_015559.3(SETBP1):c.2016_2017insT (p.Lys673Ter)
HGVS:
  • NC_000018.10:g.44951356_44951357insT
  • NG_027527.2:g.276184_276185insT
  • NM_015559.3:c.2016_2017insTMANE SELECT
  • NP_056374.2:p.Lys673Ter
  • LRG_1150t1:c.2016_2017insT
  • LRG_1150:g.276184_276185insT
  • LRG_1150p1:p.Lys673Ter
  • NC_000018.9:g.42531321_42531322insT
  • NM_015559.2:c.2016_2017insT
  • p.(Lys673*)
Protein change:
K673*
Links:
dbSNP: rs1057519594
NCBI 1000 Genomes Browser:
rs1057519594
Molecular consequence:
  • NM_015559.3:c.2016_2017insT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Intellectual disability, autosomal dominant 29 (MRD29)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29
Identifiers:
MONDO: MONDO:0014482; MedGen: C4015141; Orphanet: 436151; OMIM: 616078

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494650Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 19, 2015) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, et al.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PubMed [citation]
PMID:
25217958
PMCID:
PMC4177294

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000494650.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Patient with mental retardation. Autosomal dominant mental retardation-29 is caused by heterozygous mutation in SETBP1 gene. This mutation is predicted to cause a truncated and non-functional SETBP1 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023