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NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jun 21, 2019)
Last evaluated:
Jun 5, 2019
Accession:
VCV000031695.3
Variation ID:
31695
Description:
single nucleotide variant
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NM_001193466.2(KANSL1):c.916C>T (p.Gln306Ter)

Allele ID
40355
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171228 (GRCh38) GRCh38 UCSC
17: 44248594 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44248594G>A
NC_000017.11:g.46171228G>A
NG_032784.1:g.59147C>T
... more HGVS
Protein change
Q306*
Other names
-
Canonical SPDI
NC_000017.11:46171227:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342804
OMIM: 612452.0003
dbSNP: rs281865468
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Jun 5, 2019 RCV000024373.5
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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
(Jun 05, 2019)
criteria provided, single submitter
Method: curation
Koolen-de Vries syndrome
Allele origin: unknown
SIB Swiss Institute of Bioinformatics
Accession: SCV000994928.1
Submitted: (Jun 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This variant is interpreted as a Pathogenic for Koolen-De Vries syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at … (more)
pathologic
(Nov 20, 2012)
no assertion criteria provided
Method: curation
KANSL1-Related Intellectual Disability Syndrome
Allele origin: not provided
GeneReviews
Accession: SCV000055764.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Apr 29, 2012)
no assertion criteria provided
Method: literature only
KOOLEN-DE VRIES SYNDROME
Allele origin: germline
OMIM
Accession: SCV000045666.3
Submitted: (Jun 08, 2012)
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
Koolen-de Vries Syndrome Koolen DA - 2019 PMID: 20301783
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Koolen DA European journal of human genetics : EJHG 2016 PMID: 26306646
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Koolen DA Nature genetics 2012 PMID: 22544363

Text-mined citations for rs281865468...

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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 Sep 29, 2021