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.1347G>A (p.Trp449Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jun 3, 2022
Most recent Submission:
Jun 3, 2022
Last evaluated:
May 22, 2022
Accession:
VCV001687601.1
Variation ID:
1687601
Description:
single nucleotide variant
Help

NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)

Allele ID
1679893
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46094644 (GRCh38) GRCh38 UCSC
17: 44172010 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1347G>A MANE Select NP_056258.1:p.Trp449Ter nonsense
NM_001193465.2:c.1347G>A NP_001180394.1:p.Trp449Ter nonsense
NM_001193466.2:c.1347G>A NP_001180395.1:p.Trp449Ter nonsense
... more HGVS
Protein change
W449*
Other names
-
Canonical SPDI
NC_000017.11:46094643:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 22, 2022 RCV002251283.1
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
1071 1218

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(May 22, 2022)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: yes
Allele origin: germline
3billion
Accession: SCV002521870.1
First in ClinVar: Jun 03, 2022
Last updated: Jun 03, 2022
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through … (more)
Clinical Features:
Intellectual disability (present) , Abnormal facial shape (present)
Zygosity: 1 Single Heterozygote

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.

Record last updated Jun 05, 2022