NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000519791.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)]

NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)

Gene:
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)
HGVS:
  • NC_000017.11:g.46171138C>A
  • NG_032784.1:g.59237G>T
  • NM_001193465.2:c.1006G>T
  • NM_001193466.2:c.1006G>T
  • NM_001379198.1:c.1006G>T
  • NM_015443.4:c.1006G>TMANE SELECT
  • NP_001180394.1:p.Glu336Ter
  • NP_001180395.1:p.Glu336Ter
  • NP_001366127.1:p.Glu336Ter
  • NP_056258.1:p.Glu336Ter
  • NC_000017.10:g.44248504C>A
  • NM_001193466.1:c.1006G>T
Protein change:
E336*
Links:
dbSNP: rs1555575197
NCBI 1000 Genomes Browser:
rs1555575197
Molecular consequence:
  • NM_001193465.2:c.1006G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001193466.2:c.1006G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379198.1:c.1006G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015443.4:c.1006G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000618575GeneDxcriteria provided, single submitter
Pathogenic
(Jun 27, 2017)
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, SCV000618575.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The E336X variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E336X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret E336X as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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