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NM_000218.3(KCNQ1):c.781-6G>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000304218.2
Variation ID:
304218
Description:
single nucleotide variant
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NM_000218.3(KCNQ1):c.781-6G>T

Allele ID
326178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2572840 (GRCh38) GRCh38 UCSC
11: 2594070 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2572840G>T
NC_000011.9:g.2594070G>T
NG_008935.1:g.132850G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2572839:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10638251
dbSNP: rs886048164
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000264807.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000270782.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000304778.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000361779.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000363424.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Short QT Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370260.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Jervell and Lange-Nielsen Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370263.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Long QT Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370264.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Atrial Fibrillation
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370261.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Romano-Ward Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000370262.2
Submitted: (Oct 18, 2016)
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 rs886048164...

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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 24, 2021