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NM_015443.4(KANSL1):c.-90+512del AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001549475.2

Allele description [Variation Report for NM_015443.4(KANSL1):c.-90+512del]

NM_015443.4(KANSL1):c.-90+512del

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.-90+512del
HGVS:
  • NC_000017.11:g.46192323del
  • NG_032784.1:g.38064del
  • NM_001193465.2:c.-89-20079del
  • NM_001193466.2:c.-90+108del
  • NM_001379198.1:c.-89-20079del
  • NM_015443.4:c.-90+512delMANE SELECT
  • NC_000017.10:g.44269689del
Molecular consequence:
  • NM_001193465.2:c.-89-20079del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193466.2:c.-90+108del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001379198.1:c.-89-20079del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015443.4:c.-90+512del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001769631GeneDxcriteria provided, single submitter
Likely benign
(Aug 14, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001769631.1

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

Last Updated: Apr 23, 2022