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NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Dec 6, 2016
Most recent Submission:
May 16, 2022
Last evaluated:
Dec 8, 2021
Accession:
VCV000323781.7
Variation ID:
323781
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)

Allele ID
338900
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46082483 (GRCh38) GRCh38 UCSC
17: 44159849 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.1491A>G MANE Select NP_056258.1:p.Pro497= synonymous
NM_001193465.2:c.1491A>G NP_001180394.1:p.Pro497= synonymous
NM_001193466.2:c.1491A>G NP_001180395.1:p.Pro497= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:46082482:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.08626 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.14794
Trans-Omics for Precision Medicine (TOPMed) 0.14811
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.16377
1000 Genomes Project 0.08626
Links
ClinGen: CA8618805
dbSNP: rs17576165
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 20, 2017 RCV000712035.3
Benign 1 criteria provided, single submitter Dec 8, 2021 RCV001514688.4
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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
Benign
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842449.1
First in ClinVar: Oct 20, 2018
Last updated: Oct 20, 2018
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001900570.1
First in ClinVar: Sep 23, 2021
Last updated: Sep 23, 2021
Benign
(Dec 08, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001722592.2
First in ClinVar: Jun 15, 2021
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 rs17576165...

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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