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NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Jun 23, 2014
Most recent Submission:
Jan 21, 2023
Last evaluated:
Dec 8, 2021
Accession:
VCV000137968.13
Variation ID:
137968
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)

Allele ID
141671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46038598 (GRCh38) GRCh38 UCSC
17: 44115964 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.2481C>T MANE Select NP_056258.1:p.Ser827= synonymous
NM_001193465.2:c.2481C>T NP_001180394.1:p.Ser827= synonymous
NM_001193466.2:c.2481C>T NP_001180395.1:p.Ser827= synonymous
... more HGVS
Protein change
-
Other names
p.S827S:TCC>TCT
Canonical SPDI
NC_000017.11:46038597:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00048
Exome Aggregation Consortium (ExAC) 0.00064
The Genome Aggregation Database (gnomAD), exomes 0.00043
The Genome Aggregation Database (gnomAD) 0.00044
Trans-Omics for Precision Medicine (TOPMed) 0.00044
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA291703
dbSNP: rs143653891
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 20, 2014 RCV000126397.1
Benign 1 criteria provided, single submitter Dec 8, 2021 RCV000527745.8
Likely benign 1 criteria provided, single submitter Sep 1, 2021 RCV001725990.7
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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
1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Feb 20, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000169901.10
First in ClinVar: Jun 23, 2014
Last updated: Jun 23, 2014
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000645048.6
First in ClinVar: Dec 26, 2017
Last updated: May 16, 2022
Likely benign
(Sep 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001961705.7
First in ClinVar: Oct 08, 2021
Last updated: Jan 21, 2023
Number of individuals with the variant: 1

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 rs143653891...

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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 Jan 21, 2023