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NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Aug 14, 2019
Most recent Submission:
May 28, 2022
Last evaluated:
May 4, 2022
Accession:
VCV000643495.5
Variation ID:
643495
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)

Allele ID
646118
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46032084 (GRCh38) GRCh38 UCSC
17: 44109450 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.3053C>A MANE Select NP_056258.1:p.Thr1018Asn missense
NM_001193465.2:c.3050C>A NP_001180394.1:p.Thr1017Asn missense
NM_001193466.2:c.3053C>A NP_001180395.1:p.Thr1018Asn missense
... more HGVS
Protein change
T1017N, T1018N
Other names
-
Canonical SPDI
NC_000017.11:46032083:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs145863194
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 31, 2021 RCV000797205.4
Uncertain significance 1 criteria provided, single submitter May 4, 2022 RCV002249512.1
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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
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 31, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000936752.2
First in ClinVar: Aug 14, 2019
Last updated: May 16, 2022
Uncertain significance
(May 04, 2022)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Mendelics
Accession: SCV002517221.1
First in ClinVar: May 28, 2022
Last updated: May 28, 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 rs145863194...

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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