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NM_015443.4(KANSL1):c.1653-116A>G

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Aug 26, 2019
Most recent Submission:
Aug 26, 2019
Last evaluated:
Jun 18, 2018
Accession:
VCV000674896.1
Variation ID:
674896
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.1653-116A>G

Allele ID
668868
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46066848 (GRCh38) GRCh38 UCSC
17: 44144214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1653-116A>G MANE Select
NM_001193465.2:c.1653-116A>G
NM_001193466.2:c.1653-116A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46066847:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.13039 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.05885
Trans-Omics for Precision Medicine (TOPMed) 0.05965
The Genome Aggregation Database (gnomAD) 0.04679
1000 Genomes Project 0.13039
Links
dbSNP: rs2301732
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 18, 2018 RCV000834224.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
1056 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000975992.1
First in ClinVar: Aug 26, 2019
Last updated: Aug 26, 2019
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs2301732...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 24, 2022