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NM_001193466.2(KANSL1):c.540del (p.Lys180fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Dec 31, 2017
Accession:
VCV000689767.1
Variation ID:
689767
Description:
1bp deletion
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NM_001193466.2(KANSL1):c.540del (p.Lys180fs)

Allele ID
677455
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171604 (GRCh38) GRCh38 UCSC
17: 44248970 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44248973del
NC_000017.11:g.46171607del
NM_001193465.1:c.540del NP_001180394.1:p.Lys180fs frameshift
... more HGVS
Protein change
K180fs
Other names
-
Canonical SPDI
NC_000017.11:46171603:TTTT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1597874008
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 Dec 31, 2017 RCV000850564.1
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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
878 1037

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 31, 2017)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Allele origin: germline
Baylor Genetics
Accession: SCV000992779.1
Submitted: (Mar 14, 2019)
Evidence details
Publications
PubMed (2)

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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Title Author Journal Year Link
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Keen C American journal of medical genetics. Part A 2017 PMID: 28211987
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Zollino M Journal of medical genetics 2015 PMID: 26424144

Text-mined citations for rs1597874008...

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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 06, 2021