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NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Apr 12, 2019
Accession:
VCV000067295.3
Variation ID:
67295
Description:
single nucleotide variant
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NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)

Allele ID
78191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150951546 (GRCh38) GRCh38 UCSC
7: 150648634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q12809:p.Tyr616Cys
LRG_288:g.31381A>G
LRG_288t2:c.1847A>G LRG_288p2:p.Tyr616Cys
... more HGVS
Protein change
Y276C, Y616C
Other names
p.Y616C:TAC>TGC
Canonical SPDI
NC_000007.14:150951545:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA005674
UniProtKB: Q12809#VAR_074849
dbSNP: rs199472946
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 26, 2015 RCV000157265.2
Pathogenic 1 criteria provided, single submitter Apr 12, 2019 RCV000182032.2
not provided 1 no assertion provided - RCV000058013.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2027 2098

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 26, 2015)
criteria provided, single submitter
Method: clinical testing
Long QT syndrome
Allele origin: germline
Blueprint Genetics
Accession: SCV000206995.3
Submitted: (Jan 15, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000234335.8
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Observed in individuals with LQTS referred for genetic testing at Genedx and in the published literature (Kapplinger et al., 2009); Not observed in large population … (more)
not provided
(-)
no assertion provided
Method: literature only
Congenital long QT syndrome
Allele origin: germline
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust
Accession: SCV000089533.3
Submitted: (Sep 22, 2016)
Evidence details
Publications
PubMed (2)
Comment:
This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily … (more)

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
Paralogous annotation of disease-causing variants in long QT syndrome genes. Ware JS Human mutation 2012 PMID: 22581653
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Kapplinger JD Heart rhythm 2009 PMID: 19716085

Text-mined citations for rs199472946...

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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