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NM_181798.1(KCNQ1):c.1305-2A>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 11, 2020
Accession:
VCV000207973.6
Variation ID:
207973
Description:
single nucleotide variant
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NM_181798.1(KCNQ1):c.1305-2A>G

Allele ID
204202
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2776984 (GRCh38) GRCh38 UCSC
11: 2798214 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2776984A>G
NC_000011.9:g.2798214A>G
NG_008935.1:g.336994A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2776983:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575754
dbSNP: rs878854350
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 1, 2011 RCV000234808.1
Likely pathogenic 1 criteria provided, single submitter May 7, 2019 RCV000456381.3
Likely pathogenic 1 criteria provided, single submitter Aug 11, 2020 RCV000621754.2
Pathogenic 1 no assertion criteria provided Mar 9, 2017 RCV000786150.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2011)
criteria provided, single submitter
Method: research
Long QT syndrome, LQT1 subtype
Allele origin: germline
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital
Study: Life Threatening Long QT Syndromes
Accession: SCV000240223.2
Submitted: (Aug 04, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Aug 11, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736404.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.1686-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 14 in the KCNQ1 gene. This variant was … (more)
Likely pathogenic
(May 07, 2019)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Invitae
Accession: SCV000543298.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 13 of the KCNQ1 gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Mar 09, 2017)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000924825.1
Submitted: (Aug 15, 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
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. Vyas B Indian pacing and electrophysiology journal 2016 PMID: 27485560
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. Vyas B American journal of medical genetics. Part A 2016 PMID: 27041150
The genetic basis of long QT and short QT syndromes: a mutation update. Hedley PL Human mutation 2009 PMID: 19862833
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs878854350...

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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