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NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 5, 2019
Accession:
VCV000851154.2
Variation ID:
851154
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.2809C>T (p.Gln937Ter)

Allele ID
842681
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73323284 (GRCh38) GRCh38 UCSC
15: 73615625 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73323284G>A
NC_000015.9:g.73615625G>A
NG_009063.1:g.50981C>T
NM_005477.3:c.2809C>T MANE Select NP_005468.1:p.Gln937Ter nonsense
Protein change
Q937*
Other names
-
Canonical SPDI
NC_000015.10:73323283:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 5, 2019 RCV001055493.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCN4 - - GRCh38
GRCh37
781 815

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 05, 2019)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV001219890.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the HCN4 gene (p.Gln937*). While this is not anticipated to result in nonsense mediated … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021