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NM_005477.3(HCN4):c.546C>G (p.Pro182=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000240172.7
Variation ID:
240172
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.546C>G (p.Pro182=)

Allele ID
242116
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73367725 (GRCh38) GRCh38 UCSC
15: 73660066 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73367725G>C
NC_000015.9:g.73660066G>C
NG_009063.1:g.6540C>G
NM_005477.3:c.546C>G MANE Select NP_005468.1:p.Pro182= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:73367724:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00078
Exome Aggregation Consortium (ExAC) 0.00441
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00149
The Genome Aggregation Database (gnomAD), exomes 0.00448
Links
ClinGen: CA7649464
dbSNP: rs571671463
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 24, 2015 RCV000274839.2
Benign 1 criteria provided, single submitter Nov 2, 2015 RCV000619534.1
Benign 1 criteria provided, single submitter Feb 19, 2018 RCV000711895.4
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV001081299.2
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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
782 816

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 28, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000513213.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337462.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV000288915.7
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Feb 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842306.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Nov 02, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000737453.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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.

Text-mined citations for rs571671463...

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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