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NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Aug 10, 2021)
Last evaluated:
May 28, 2021
Accession:
VCV000289603.12
Variation ID:
289603
Description:
single nucleotide variant
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NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)

Allele ID
273840
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 77090414 (GRCh38) GRCh38 UCSC
10: 78850172 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.78850172G>A
NC_000010.11:g.77090414G>A
NG_012270.1:g.552406C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:77090413:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00245
Trans-Omics for Precision Medicine (TOPMed) 0.00118
The Genome Aggregation Database (gnomAD) 0.00151
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00117
Links
ClinGen: CA5568484
dbSNP: rs45617636
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 Aug 19, 2016 RCV000295616.2
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000388522.7
Likely benign 2 criteria provided, multiple submitters, no conflicts May 28, 2021 RCV001200072.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNMA1 - - GRCh38
GRCh37
446 630

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343989.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000365128.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613869.1
Submitted: (Aug 17, 2017)
Evidence details
Likely benign
(Oct 05, 2016)
criteria provided, single submitter
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743906.1
Submitted: (Apr 17, 2018)
Evidence details
Likely benign
(Aug 02, 2017)
criteria provided, single submitter
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745339.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV000638698.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 28, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001779198.1
Submitted: (Aug 10, 2021)
Evidence details
Likely benign
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001370933.4
Submitted: (Jul 04, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KCNMA1 - - - -

Text-mined citations for rs45617636...

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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 Nov 27, 2021