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NM_005477.3(HCN4):c.3195C>A (p.Val1065=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Aug 20, 2021)
Last evaluated:
May 18, 2020
Accession:
VCV000698053.6
Variation ID:
698053
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.3195C>A (p.Val1065=)

Allele ID
688485
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73322898 (GRCh38) GRCh38 UCSC
15: 73615239 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73322898G>T
NC_000015.9:g.73615239G>T
NG_009063.1:g.51367C>A
NM_005477.3:c.3195C>A MANE Select NP_005468.1:p.Val1065= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73322897:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00000
Links
dbSNP: rs4493011
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 18, 2020 RCV000865242.3
Uncertain significance 1 criteria provided, single submitter Dec 9, 2019 RCV001575483.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely benign
(May 18, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV001006177.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Dec 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001802487.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
Reported in a Chinese individual with sudden unexplained nocturnal death syndrome (Wu et al., 2018); In silico analysis, which includes splice predictors and evolutionary conservation, … (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.

Text-mined citations for rs4493011...

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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 Sep 29, 2021