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NM_001193466.2(KANSL1):c.1006G>T (p.Glu336Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 27, 2017
Accession:
VCV000450042.2
Variation ID:
450042
Description:
single nucleotide variant
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NM_001193466.2(KANSL1):c.1006G>T (p.Glu336Ter)

Allele ID
445791
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171138 (GRCh38) GRCh38 UCSC
17: 44248504 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44248504C>A
NC_000017.11:g.46171138C>A
NM_001193465.1:c.1006G>T NP_001180394.1:p.Glu336Ter nonsense
... more HGVS
Protein change
E336*
Other names
-
Canonical SPDI
NC_000017.11:46171137:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA399979698
dbSNP: rs1555575197
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 Jun 27, 2017 RCV000519791.1
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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
876 1035

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 27, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618575.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E336X variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (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 rs1555575197...

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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 Feb 27, 2021