NM_015443.4(KANSL1):c.*1234_*1235dup AND Syndromic intellectual disability

NM_015443.4(KANSL1):c.1234_1235dup AND Syndromic intellectual disability

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000261190.5

Allele description [Variation Report for NM_015443.4(KANSL1):c.1234_1235dup]

NM_015443.4(KANSL1):c.1234_1235dup

Gene:

KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_015443.4(KANSL1):c.*1234_*1235dup

HGVS:

NC_000017.11:g.46030248_46030249dup
NG_007398.2:g.140786_140787dup
NG_032784.1:g.200133_200134dup
NM_001193465.2:c.*1234_*1235dup
NM_001193466.2:c.*1234_*1235dup
NM_001379198.1:c.*1234_*1235dup
NM_015443.4:c.*1234_*1235dupMANE SELECT
LRG_660:g.140786_140787dup
NC_000017.10:g.44107614_44107615dup
NG_007398.1:g.140838_140839dup
NM_001193466.1:c.*1234_*1235dupAA

Links:

dbSNP: rs140510364

NCBI 1000 Genomes Browser:

rs140510364

Molecular consequence:

NM_001193465.2:c.*1234_*1235dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001193466.2:c.*1234_*1235dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001379198.1:c.*1234_*1235dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015443.4:c.*1234_*1235dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Syndromic intellectual disability
Synonyms:: Intellectual disability syndrome
Identifiers:: MONDO: MONDO:0000508; MedGen: C5680525

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000403584	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000403584

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000403584.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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