NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 13, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000187786.1

Allele description [Variation Report for NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn)]

NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn)

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_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn)
Other names:
p.S845N:AGC>AAC
HGVS:
  • NC_000017.11:g.46038545C>T
  • NG_032784.1:g.191830G>A
  • NM_001193465.1:c.2534G>A
  • NM_001193466.2:c.2534G>A
  • NM_015443.3:c.2534G>A
  • NP_001180394.1:p.Ser845Asn
  • NP_001180395.1:p.Ser845Asn
  • NP_056258.1:p.Ser845Asn
  • NC_000017.10:g.44115911C>T
  • NM_001193466.1:c.2534G>A
Protein change:
S845N
Links:
dbSNP: rs796052597
NCBI 1000 Genomes Browser:
rs796052597
Molecular consequence:
  • NM_001193465.1:c.2534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.2534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.3:c.2534G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000241383GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 13, 2014)
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, SCV000241383.10

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

Description

This variant is denoted p.Ser845Asn (AGC>AAC): c.2534 G>A in exon 10 of the KANSL1 gene (NM_001193466.1). The S845N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved in mammals in the KANSL1 protein. However, the S845N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 27, 2021

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