NM_001193466.2(KANSL1):c.*1234_*1235dup AND Syndromic intellectual disability

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000261190.2

Allele description [Variation Report for NM_001193466.2(KANSL1):c.*1234_*1235dup]

NM_001193466.2(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_001193466.2(KANSL1):c.*1234_*1235dup
HGVS:
  • NC_000017.11:g.46030248_46030249dup
  • NG_007398.1:g.140838_140839dup
  • NG_032784.1:g.200133_200134dup
  • NM_001193465.1:c.*1234_*1235dup
  • NM_001193466.2:c.*1234_*1235dup
  • NM_015443.3:c.*1234_*1235dup
  • NC_000017.10:g.44107614_44107615dup
  • NM_001193466.1:c.*1234_*1235dupAA
Links:
dbSNP: rs140510364
NCBI 1000 Genomes Browser:
rs140510364
Molecular consequence:
  • NM_001193465.1: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_015443.3: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: CN225415

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000403584Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000403584.2

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

Last Updated: Sep 29, 2021

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