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NM_181798.1(KCNQ1):c.*875A>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 29, 2021)
Last evaluated:
May 12, 2021
Accession:
VCV000304262.5
Variation ID:
304262
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.*875A>G

Allele ID
320017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 2848878 (GRCh38) GRCh38 UCSC
11: 2870108 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_287t2:c.*875A>G
LRG_287t1:c.*875A>G
LRG_287:g.408888A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2848877:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.47824 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.38591
The Genome Aggregation Database (gnomAD), exomes 0.44578
Trans-Omics for Precision Medicine (TOPMed) 0.40759
Exome Aggregation Consortium (ExAC) 0.44813
1000 Genomes Project 0.52177
Links
ClinGen: CA041073
dbSNP: rs8234
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 Jun 14, 2016 RCV000291070.2
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV000306710.2
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV000345978.2
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV000376159.2
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV000403219.2
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV001511445.1
Benign 1 criteria provided, single submitter May 12, 2021 RCV001718616.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNQ1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1161 1427
KCNQ1-AS1 - - - GRCh38
GRCh38
- 167

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV001718688.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Romano-Ward Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370565.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Short QT syndrome 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370566.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370568.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370567.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370564.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(May 12, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001949022.1
Submitted: (Sep 29, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 22199116, 27531917)

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 rs8234...

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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 06, 2021