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NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 17, 2017
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 20, 2021
Accession:
VCV000408958.4
Variation ID:
408958
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr)

Allele ID
402598
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46172028 (GRCh38) GRCh38 UCSC
17: 44249394 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.116A>C MANE Select NP_056258.1:p.Asn39Thr missense
NM_001193465.2:c.116A>C NP_001180394.1:p.Asn39Thr missense
NM_001193466.2:c.116A>C NP_001180395.1:p.Asn39Thr missense
... more HGVS
Protein change
N39T
Other names
-
Canonical SPDI
NC_000017.11:46172027:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA16615730
dbSNP: rs1060502199
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 20, 2021 RCV000470796.4
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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
Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000548813.3
First in ClinVar: Apr 17, 2017
Last updated: May 16, 2022

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 rs1060502199...

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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 Aug 24, 2022