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NM_020822.3(KCNT1):c.2944-52CTCC[8]

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Apr 28, 2017
Accession:
VCV000195981.1
Variation ID:
195981
Description:
12bp microsatellite
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NM_020822.3(KCNT1):c.2944-52CTCC[8]

Allele ID
193142
Variant type
Microsatellite
Variant length
12 bp
Cytogenetic location
9q34.3
Genomic location
9: 135784483-135784494 (GRCh38) GRCh38 UCSC
9: 138676329-138676340 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.138676331_138676334CCCT[8]
NC_000009.12:g.135784485_135784488CCCT[8]
NM_020822.3:c.2944-52CTCC[8] MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:135784482:CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT:CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA242710
dbSNP: rs55843930
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 28, 2017 RCV000176683.3
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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
Likely benign
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000568887.4
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
(Apr 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228374.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KCNT1 - - - -

Text-mined citations for rs55843930...

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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