NM_015559.3(SETBP1):c.1821del (p.Ser608fs) AND Intellectual disability, autosomal dominant 29

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 14, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001265509.2

Allele description [Variation Report for NM_015559.3(SETBP1):c.1821del (p.Ser608fs)]

NM_015559.3(SETBP1):c.1821del (p.Ser608fs)

Gene:

SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

18q12.3

Genomic location:

Preferred name:

NM_015559.3(SETBP1):c.1821del (p.Ser608fs)

HGVS:

NC_000018.10:g.44951161del
NG_027527.2:g.275989del
NM_015559.3:c.1821delMANE SELECT
NP_056374.2:p.Ser608fs
LRG_1150t1:c.1821del
LRG_1150:g.275989del
LRG_1150p1:p.Ser608fs
NC_000018.9:g.42531126del

Protein change:

S608fs

Links:

dbSNP: rs797045952

NCBI 1000 Genomes Browser:

rs797045952

Molecular consequence:

NM_015559.3:c.1821del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443653	GenomeConnect - Simons Searchlight	no assertion criteria provided	Pathogenic (Jul 14, 2017)	unknown	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443653

GenomeConnect - Simons Searchlight

no assertion criteria provided

Pathogenic
(Jul 14, 2017)

unknown

provider interpretation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443653.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-07-14 and interpreted as Pathogenic. Variant was initially reported on 2014-05-23 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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