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NM_020822.3(KCNT1):c.1036-15G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000261360.2
Variation ID:
261360
Description:
single nucleotide variant
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NM_020822.3(KCNT1):c.1036-15G>A

Allele ID
253461
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.3
Genomic location
9: 135765016 (GRCh38) GRCh38 UCSC
9: 138656862 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.138656862G>A
NC_000009.12:g.135765016G>A
NM_020822.3:c.1036-15G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:135765015:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02236 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02647
Trans-Omics for Precision Medicine (TOPMed) 0.02459
The Genome Aggregation Database (gnomAD) 0.02051
Exome Aggregation Consortium (ExAC) 0.02262
1000 Genomes Project 0.02236
The Genome Aggregation Database (gnomAD), exomes 0.01894
Links
ClinGen: CA5326753
dbSNP: rs112341167
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 Jan 13, 2016 RCV000248524.2
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV001518059.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNT1 - - GRCh38
GRCh37
1216 1274

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313658.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519977.4
Submitted: (Mar 26, 2018)
Evidence details
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)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
Allele origin: germline
Invitae
Accession: SCV001726690.1
Submitted: (Jan 07, 2021)
Evidence details

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 rs112341167...

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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 23, 2021