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NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe)

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2
First in ClinVar:
Apr 9, 2018
Most recent Submission:
Jun 3, 2022
Last evaluated:
Sep 17, 2021
Accession:
VCV000514645.2
Variation ID:
514645
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe)

Allele ID
506888
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171341 (GRCh38) GRCh38 UCSC
17: 44248707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.803C>T MANE Select NP_056258.1:p.Ser268Phe missense
NM_001193465.2:c.803C>T NP_001180394.1:p.Ser268Phe missense
NM_001193466.2:c.803C>T NP_001180395.1:p.Ser268Phe missense
... more HGVS
Protein change
S268F
Other names
-
Canonical SPDI
NC_000017.11:46171340:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA399980675
dbSNP: rs1343422507
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 9, 2018 RCV000607548.1
Uncertain significance 1 criteria provided, single submitter Sep 17, 2021 RCV001855236.1
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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
1056 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely benign
(Jan 09, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000726503.1
First in ClinVar: Apr 09, 2018
Last updated: Apr 09, 2018
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)
Uncertain significance
(Sep 17, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002215375.1
First in ClinVar: Jun 03, 2022
Last updated: Jun 03, 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 rs1343422507...

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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 Jun 03, 2022