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NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jun 13, 2014
Accession:
VCV000205798.2
Variation ID:
205798
Description:
single nucleotide variant
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NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn)

Allele ID
203388
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46038545 (GRCh38) GRCh38 UCSC
17: 44115911 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.44115911C>T
NC_000017.11:g.46038545C>T
NM_001193465.1:c.2534G>A NP_001180394.1:p.Ser845Asn missense
... more HGVS
Protein change
S845N
Other names
p.S845N:AGC>AAC
Canonical SPDI
NC_000017.11:46038544:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA315223
dbSNP: rs796052597
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 Jun 13, 2014 RCV000187786.1
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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
876 1035

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 13, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241383.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted p.Ser845Asn (AGC>AAC): c.2534 G>A in exon 10 of the KANSL1 gene (NM_001193466.1). The S845N variant has not been published as a … (more)

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 rs796052597...

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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 Feb 27, 2021