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NM_005477.3(HCN4):c.1014G>C (p.Leu338=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 31, 2021)
Last evaluated:
Sep 4, 2020
Accession:
VCV000538097.7
Variation ID:
538097
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.1014G>C (p.Leu338=)

Allele ID
529108
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73343580 (GRCh38) GRCh38 UCSC
15: 73635921 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73343580C>G
NC_000015.9:g.73635921C>G
NG_009063.1:g.30685G>C
NM_005477.3:c.1014G>C MANE Select NP_005468.1:p.Leu338= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73343579:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00022
Links
ClinGen: CA7649382
dbSNP: rs147771899
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 Sep 4, 2020 RCV000647258.4
Likely benign 1 criteria provided, single submitter Dec 4, 2018 RCV001584492.3
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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
782 816

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 04, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000769047.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001812987.1
Submitted: (Aug 31, 2021)
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 rs147771899...

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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