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NM_015443.4(KANSL1):c.1899C>T (p.Cys633=) AND not provided

Clinical significance:Likely benign (Last evaluated: Feb 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)]

NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)

KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
  • NC_000017.11:g.46050654G>A
  • NG_032784.1:g.179721C>T
  • NM_001193465.2:c.1899C>T
  • NM_001193466.2:c.1899C>T
  • NM_001379198.1:c.1899C>T
  • NM_015443.4:c.1899C>TMANE SELECT
  • NP_001180394.1:p.Cys633=
  • NP_001180395.1:p.Cys633=
  • NP_001366127.1:p.Cys633=
  • NP_056258.1:p.Cys633=
  • NC_000017.10:g.44128020G>A
  • NM_001193466.1:c.1899C>T
Molecular consequence:
  • NM_001193465.2:c.1899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001193466.2:c.1899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001379198.1:c.1899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015443.4:c.1899C>T - synonymous variant - [Sequence Ontology: SO:0001819]


none provided
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001939540GeneDxcriteria provided, single submitter
Likely benign
(Feb 6, 2020)
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, SCV001939540.1

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

Last Updated: Aug 23, 2022