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NM_005477.3(HCN4):c.1548C>T (p.Leu516=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 29, 2018
Accession:
VCV000412792.3
Variation ID:
412792
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.1548C>T (p.Leu516=)

Allele ID
400491
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73329615 (GRCh38) GRCh38 UCSC
15: 73621956 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73329615G>A
NC_000015.9:g.73621956G>A
NG_009063.1:g.44650C>T
NM_005477.3:c.1548C>T MANE Select NP_005468.1:p.Leu516= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73329614:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16614561
dbSNP: rs1060503838
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 Dec 29, 2018 RCV000476937.2
Likely benign 1 criteria provided, single submitter Dec 28, 2018 RCV001392174.1
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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
(Dec 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000554499.3
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Dec 28, 2018)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV001593813.1
Submitted: (Jan 07, 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 rs1060503838...

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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