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NM_000891.2(KCNJ2):c.*832G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 16, 2021)
Last evaluated:
May 13, 2021
Accession:
VCV000324847.4
Variation ID:
324847
Description:
single nucleotide variant
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NM_000891.2(KCNJ2):c.*832G>A

Allele ID
345645
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.3
Genomic location
17: 70177155 (GRCh38) GRCh38 UCSC
17: 68173296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_328t1:c.*832G>A
LRG_328:g.12621G>A
NM_000891.2:c.*832G>A 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:70177154:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.07248 (A)

Allele frequency
1000 Genomes Project 0.07248
The Genome Aggregation Database (gnomAD) 0.06099
Trans-Omics for Precision Medicine (TOPMed) 0.06892
Links
ClinGen: CA10649967
dbSNP: rs10083831
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000310762.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000367817.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000407018.2
Benign 1 criteria provided, single submitter May 13, 2021 RCV001672540.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNJ2 - - GRCh38
GRCh37
376 398

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Andersen Tawil syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000406052.3
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Short QT syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000406053.3
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 9
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000406051.3
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
(May 13, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001885699.1
Submitted: (Sep 16, 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 rs10083831...

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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 08, 2021