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NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000187793.1

Allele description [Variation Report for NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg)]

NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg)

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.452A>G (p.Gln151Arg)
Other names:
p.Q151R:CAA>CGA
HGVS:
  • NC_000017.11:g.46171692T>C
  • NG_032784.1:g.58683A>G
  • NM_001193465.2:c.452A>G
  • NM_001193466.2:c.452A>G
  • NM_001379198.1:c.452A>G
  • NM_015443.4:c.452A>GMANE SELECT
  • NP_001180394.1:p.Gln151Arg
  • NP_001180395.1:p.Gln151Arg
  • NP_001366127.1:p.Gln151Arg
  • NP_056258.1:p.Gln151Arg
  • NC_000017.10:g.44249058T>C
  • NM_001193466.1:c.452A>G
Protein change:
Q151R
Links:
dbSNP: rs796052600
NCBI 1000 Genomes Browser:
rs796052600
Molecular consequence:
  • NM_001193465.2:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001193466.2:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379198.1:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015443.4:c.452A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241390GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 13, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241390.11

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

Description

This variant is denoted p.Gln151Arg (CAA>CGA): c.452 A>G in exon 2 of the KANSL1 gene (NM_001193466.1). The Q151R 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. The Q151R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis predicts this variant likely does not alter the protein structure/function and missense mutations have not been previously reported in this region of the KANSL1 protein in association with KANSL1-related disorder. 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: Apr 23, 2022