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NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 13, 2021)
Last evaluated:
Apr 1, 2021
Accession:
VCV000129326.19
Variation ID:
129326
Description:
single nucleotide variant
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NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)

Allele ID
134772
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 76891672 (GRCh38) GRCh38 UCSC
10: 78651430 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.78651430G>A
NC_000010.11:g.76891672G>A
NG_012270.1:g.751148C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:76891671:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00650
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00638
1000 Genomes Project 0.00180
Exome Aggregation Consortium (ExAC) 0.00553
Trans-Omics for Precision Medicine (TOPMed) 0.00568
The Genome Aggregation Database (gnomAD), exomes 0.00570
Links
ClinGen: CA153280
dbSNP: rs45527834
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 3 criteria provided, multiple submitters, no conflicts Nov 24, 2020 RCV000117329.8
Benign/Likely benign 5 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000401590.11
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 1, 2021 RCV000859643.8
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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
KCNMA1-AS1 - - - GRCh38 - 172

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 28, 2013)
criteria provided, single submitter
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151510.1
Submitted: (Apr 30, 2014)
Evidence details
Benign
(Jan 27, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202879.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 19, 2015)
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: SCV000743905.1
Submitted: (Apr 17, 2018)
Evidence details
Likely benign
(Sep 21, 2015)
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: SCV000745338.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jan 13, 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: SCV000365114.3
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
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Invitae
Accession: SCV000638713.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001147994.7
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Aug 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001835248.1
Submitted: (Sep 07, 2021)
Evidence details
Benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001879816.1
Submitted: (Sep 13, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000732965.1
Submitted: (Apr 04, 2018)
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 rs45527834...

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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 Oct 30, 2021