NM_003011.4(SET):c.78_81del (p.Lys26fs) AND Intellectual disability, autosomal dominant 58

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2022
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:: RCV003989623.1

Allele description [Variation Report for NM_003011.4(SET):c.78_81del (p.Lys26fs)]

NM_003011.4(SET):c.78_81del (p.Lys26fs)

Gene:

SET:SET nuclear proto-oncogene [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_003011.4(SET):c.78_81del (p.Lys26fs)

HGVS:

NC_000009.12:g.128691174_128691177del
NG_030356.1:g.12520_12523del
NM_001122821.2:c.117_120del
NM_001248000.2:c.51_54del
NM_001248001.2:c.45_48del
NM_001374326.1:c.117_120del
NM_003011.4:c.78_81delMANE SELECT
NP_001116293.1:p.Lys39fs
NP_001234929.1:p.Lys17fs
NP_001234930.1:p.Lys15fs
NP_001361255.1:p.Lys39fs
NP_003002.2:p.Lys26fs
NC_000009.11:g.131453453_131453456del
NM_001122821.1:c.117_120del
NM_001122821.1:c.117_120delAGAA

Protein change:

K15fs

Links:

dbSNP: rs1589457762

NCBI 1000 Genomes Browser:

rs1589457762

Molecular consequence:

NM_001122821.2:c.117_120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001248000.2:c.51_54del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001248001.2:c.45_48del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374326.1:c.117_120del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003011.4:c.78_81del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal dominant 58
Synonyms:: Mental retardation, autosomal dominant 58; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58
Identifiers:: MONDO: MONDO:0020847; MedGen: C4748195; OMIM: 618106

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004808304	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	no assertion criteria provided	Pathogenic (Nov 10, 2022)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808304

Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

no assertion criteria provided

Pathogenic
(Nov 10, 2022)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV004808304.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 6, 2024

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