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NM_015443.4(KANSL1):c.808del (p.Leu270fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 2, 2018
Most recent Submission:
Apr 2, 2018
Last evaluated:
Feb 1, 2018
Accession:
VCV000504263.2
Variation ID:
504263
Description:
1bp deletion
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NM_015443.4(KANSL1):c.808del (p.Leu270fs)

Allele ID
495428
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171336 (GRCh38) GRCh38 UCSC
17: 44248702 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.808del MANE Select NP_056258.1:p.Leu270fs frameshift
NM_001193465.2:c.808del NP_001180394.1:p.Leu270fs frameshift
NM_001193466.2:c.808del NP_001180395.1:p.Leu270fs frameshift
... more HGVS
Protein change
L270fs
Other names
-
Canonical SPDI
NC_000017.11:46171335:GGGG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658798877
dbSNP: rs1555575489
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 1, 2018 RCV000599569.1
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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
Pathogenic
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000710576.2
First in ClinVar: Apr 02, 2018
Last updated: Apr 02, 2018
Comment:
The c.808delC variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (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 rs1555575489...

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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