Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 12, 2020
Most recent Submission:
Jul 9, 2022
Last evaluated:
Mar 1, 2017
Accession:
VCV000872792.10
Variation ID:
872792
Description:
2bp deletion
Help

NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)

Allele ID
860396
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
17q21.31
Genomic location
17: 46170855-46170856 (GRCh38) GRCh38 UCSC
17: 44248221-44248222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1288_1289del MANE Select NP_056258.1:p.Leu430fs frameshift
NM_001193465.2:c.1288_1289del NP_001180394.1:p.Leu430fs frameshift
NM_001193466.2:c.1288_1289del NP_001180395.1:p.Leu430fs frameshift
... more HGVS
Protein change
L430fs
Other names
-
Canonical SPDI
NC_000017.11:46170854:AG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2046246646
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 1, 2017 RCV001093448.6
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001250441.10
First in ClinVar: May 12, 2020
Last updated: Jul 09, 2022
Number of individuals with the variant: 1

Functional evidence

Help
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

Help
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 rs2046246646...

Help
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 Jul 09, 2022